A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions.

Adult-onset pseudohypoparathyroidism type 1B diagnosed by methylation analysis: A case report and diagnostic considerations.

Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.

Cerebral Calcification and Treatment-Resistant Seizures: A Rare Syndromic Presentation of Pseudohypoparathyroidism-A Case Report.

​The association of GNAS defects with pro-inflammatory adipokine levels in pseudohypoparathyroidism type 1.

A Rare Familial Case of Pseudohypoparathyroidism Type 1b in Two Brothers Presenting With Recurrent Leg Cramps and Learning Difficulties.

Basal Ganglia Calcification With Treatment-Resistant Hypocalcaemia and Persistent Psychosis in an 18-Year-Old: A Case Report.

Pseudohypoparathyroidism Presenting With Recurrent Twitching: Challenges Making a Diagnosis in a Low-Resource Environment.

Three-generation familial transmission of a GNAS variant: from gestational phenotype in the mother to evolving prenatal/neonatal phenotype in the offspring.

Hypocalcemia Revisited: Thinking Outside the Box!

Late-Onset Pseudohypoparathyroidism: A Case Report.

Novel Variants and Clinical Heterogeneity in Pediatric Calcium Metabolism Disorders Identified Through High-Yield Tiered Genetic Testing in a Taiwanese Cohort.

Multidimensional Characterisation of Eating Behaviour in Genetic Obesity: A Systematic Review.

Significance of GNAS mutations for morbid obesity in children.

Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disorders.

Six cases of ectopic cutaneous ossification associated with GNAS gene variants.

Human diseases caused by homozygous PTH1R mutations.

Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights.

Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B.

Pseudohypoparathyroidism with normocalcemia: a rare case report from Nepal.

Natural History of Hyperphagia in Patients with Pseudohypoparathyroidism.

Clinical evaluation and molecular analysis of genetic and epigenetic inactivation defects in GNAS in children: A multicenter experience in China.

Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith-Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted region.

A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.

Analysis of the prevalence and incidence of pseudohypoparathyroidism in Poland based on National Health Fund data with clinical presentation of own cases.

Loss-of-function Gαs rare disease variants exert mutation-specific effects on GPCR signaling.

Alpha-smooth muscle actin-expressing dermal sheath cells are a major cellular contributor to heterotopic subcutaneous ossifications in a mouse model of Albright hereditary osteodystrophy.

Atypical presentation of pseudohypoparathyroidism with absence of mutations in the GNAS gene: a case report.

Bidirectional disruption of GNAS transcripts causes broad methylation defects in pseudohypoparathyroidism type 1B.

Bone in Parathyroid Diseases Revisited: Evidence From Epidemiological, Surgical and New Drug Outcomes.

Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes.

Pseudohypoparathyroidism: Challenges in Early Recognition and Diagnosis of a Rare Hereditary Disorder.

Hypocalcemic Tetany Transiently "Cured" by Pregnancy: A Case Report.

Obesity with developmental delay in infancy: a rare cause not to miss-pseudohypoparathyroidism.

Diagnostic Imaging of Primary Cutaneous Osteoma of the Forehead.

A biallelically active embryonic enhancer dictates GNAS imprinting through allele-specific conformations.

Pseudohypoparathyroidism Type 1b with Digital Clubbing.

Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism.

A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.

The Endocrine Chameleon: Expanding the Phenotype of Pseudohypoparathyroidism 1A in Infancy.

[Clinical and genetic characteristics analysis of two children with comorbidity of two rare genetic diseases].

Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3).

gnas Knockdown Induces Obesity and AHO Features in Early Zebrafish Larvae.

Bone Microstructure and Bone Strength Among Patients with Pseudohypoparathyroidism.

Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B.

Fahr's Syndrome with Pseudohypoparathyroidism: Oral Features and Genetic Insights.

Sensory Processing Challenges in Children with Neurodevelopmental Disorders and Genetic Conditions: An Observational Study.

Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation.

Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation.

[The importance of early diagnosis in pseudohypoparathyroidism. Review of the topic and clinical - radiological findings in a case of pseudohypoparathyroidism 1 A with late presentation].

Vitamin D-dependent Rickets Type 1A Mimicking Pseudohypoparathyroidism in Presence of Active Tuberculosis.

A Curious Case of Severe Recurrent Hypocalcemia.

Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.

Prevalence of hearing loss in pseudohypoparathyroidism.

Pseudohypoparathyroidism leading to bilateral hip fracture: A case report.

Albright's Hereditary Osteodystrophy: A Rare Genetic Disorder Diagnosed on Standard Radiography.

Growth Hormone Deficiency in an Adolescent With Pseudohypoparathyroidism Type 1B.

Characterization of Digestive Manifestations in Patients with Impaired PTH/PTHrP Signaling Disorder/Pseudohypoparathyroidism.

A Novel Maternally Inherited GNAS Variant in a Family With Hyperphagia and Obesity: 3 Cases.

A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report.

STX16 exon 5-7 deletion in a patient with pseudohypoparathyroidism type 1B.

Pseudohypoparathyroidism type 1B with involuntary movements: a case report and literature review.

Induced pluripotent stem cells derived renal tubular cells from a patient with pseudohypoparathyroidism and its response to parathyroid hormone stimulation.

Teaching NeuroImage: A 9-Year-Old Boy With Pseudohypoparathyroidism.

High Prevalence of Hypercalcitoninemia in a Large Cohort of Adult and Pediatric Patients With PTH Resistance Syndromes.

Pseudohypoparathyroidism Type IB with Subclinical Hypothyroidism: a Pedigree Investigation and Literature Review.

Cutaneous Calcified Mass of Foot in Pseudohypoparathyoidism: Case Report.

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A.

A novel GNAS-Gsα splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidism.

The Diagnosis of Albright's Osteodystrophy in a Case With Respiratory Failure.

Medulloblastoma in a child with osteoma cutis - a rare association due to loss of GNAS expression.

Vara Deformity and Subluxed Humeral Heads: An Unusual Sign in Pseudohypoparathyroidism.

Epileptic seizures and abnormal tooth development as primary presentation of pseudohypoparathyroidism type 1B.

Novel 4.18 Mb deletion resulting in 2q37 microdeletion syndrome combined with PTH resistance found in one Chinese patient.

Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report.

Rare case in Somalia: Fahr's syndrome.

GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B.

A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.

Osteoma cutis in pseudohypoparathyroidism type 1A.

Interpreting epigenetic causes of recurrent hypokalemia and seizures: Gitelman syndrome co-exist with pseudohypoparathyroidism type 1B.

C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature.

The role of genetic and epigenetic GNAS alterations in the development of early-onset obesity.

Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion.

Recurrent transient severe hypocalcaemia in two siblings with type 1 Bartter syndrome.

A Case of Genetically Confirmed Pseudohypoparathyroidism Type 1a Presented with Multifocal Plate-Like Osteoma Cutis and Review of Literature.

Fahr Syndrome Secondary to Pseudohypoparathyroidism.

(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.

Explorative research on glucolipid metabolism and levels of adipokines in pseudohypoparathyroidism type 1 patients.

A Case of Pseudohypoparathyroidism Misdiagnosed as Idiopathic Epilepsy for 5 Years: Clinical Analysis and Follow-up Outcomes.

Effectiveness of topical sodium thiosulfate for ectopic calcifications and ossifications. Results of the CATSS-O study.

Pseudohypoparathyroidism: complex disease variants with unfortunate names.

Benign Recurrent Aseptic Meningitis Complicated by Pseudohypoparathyroidism: A Case Report.

GNAS locus: bone related diseases and mouse models.

Rare Case of Pseudohypoparathyroidism With Normocalcemia Because of a Novel GNAS Mutation.

Bartter Syndrome Type 1 Due to Novel SLC12A1 Mutations Associated With Pseudohypoparathyroidism Type II.

Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment.

Parathyroid Hormone Resistance: An Uncommon Cause of Hypocalcaemia in an Adult Ghanaian Female.

Pseudohypoparathyroidism versus signaling disorder: A case report.

Application of calcium-to-phosphorus (Ca/P) ratio in the diagnosis of pseudohypoparathyroidism: another piece in the puzzle of diagnosis of Ca-P metabolism disorders.

Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review.

Acute coronary syndrome with severe coronary calcification in a patient with pseudo-pseudohypoparathyroidism.

A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant.

Overweight and obesity in children and adolescents with endocrine disorders.

Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA.

Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment.

Multiple brown tumors: a bone complication due to long-term untreated pseudohypoparathyroidism.

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

Maternal Imprinting in Pseudohypoparathyroidism - A Very Rare GNAS Gene Mutation Follows the Pattern.

Vitamin D deficiency in adulthood: Presentation of 2familial cases simulating pseudohypoparathyroidism.

Nutrition recommendations for patients with pseudohypoparathyroidism.

Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population.

Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.

Craniosynostosis in primary metabolic bone disorders: a single-institution experience.

Spectrum of Disorders associated with Tetany.

GNAS gene mutations affecting XLαs and bone health: A long neglected relationship.

Neonatal and Early Infancy Features of Patients With Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism.

Fahr´s Syndrome; Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures.

Variable Bone Phenotypes in Patients with Pseudohypoparathyroidism.

Infant With Pseudohypoparathyroidism Type 1a, Misdiagnosed as Congenital Hypothyroidism.

A Rare Observation of Brachymetacarpia and Brachymetatarsia in a Patient with Primary Idiopathic Hypoparathyroidism.

The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis.

Structural and Functional Implication of Natural Variants of Gαs.

A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype.

Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion.

Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.

Parathyroid diseases and metabolic syndrome.

Atrophic macules containing mesenchymal cells are precursor lesions of osteoma cutis in Albright hereditary osteodystrophy.

Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2.

Whole-genome sequencing revealed a novel long-range deletion mutation spanning GNAS in familial pseudohypoparathyroidism.

Prevalence of Chiari malformation type 1 is increased in pseudohypoparathyroidism type 1A and associated with aberrant bone development.

One half-century of advances in the evaluation and management of disorders of bone and mineral metabolism in children and adolescents.

Basal ganglia calcification: pseudohypoparathyroidism with short fourth metacarpals.

[Analysis of GNAS gene variant in a Chinese pedigree affected with pseudohypoparathyroidism].

Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?

Pseudohypoparathyroidism during pregnancy and the postpartum period: A case series of five patients.

Clinical and genetic characteristics for 4 patients with Type Ib pseudohypoparathyroidism.

Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families.

Sporadic pseudohypoparathyroidism type 1B due to methylation abnormality combined with hypokalemia: A case report and review.

PTH, FGF-23, Klotho and Vitamin D as regulators of calcium and phosphorus: Genetics, epigenetics and beyond.

Full-length versus intact PTH concentrations in pseudohypoparathyroidism type 1 and primary hyperparathyroidism: clinical evaluation of immunoassays in individuals from China.

New insights into thyroid dysfunction in patients with inactivating parathyroid hormone/parathyroid hormone-related protein signalling disorder (the hormonal and ultrasound aspects): One-centre preliminary results.

Paroxysmal Dyskinesia in a case of Hypocalcemia with Hypothyroidism and Pseudohypoparathyroidism.

Prevalence of Pseudohypoparathyroidism and Nonsurgical Hypoparathyroidism in Japan in 2017: A Nationwide Survey.

[Pseudohypoparathyroidism and variants: A translational medicine success story].

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants.

Characterizing Cerebral Imaging and Electroclinical Features of Five Pseudohypoparathyroidism Cases Presenting with Epileptic Seizures.

Delayed diagnosis of pseudohypoparathyroidism type 1a with rare hypothyroidism since childhood.

A patient with pseudohypoparathyroidism type 1A previously misdiagnosed as hereditary multiple exostosis: A case report.

GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report.

Resting Energy Expenditure and Body Composition in Children and Adolescents With Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity.

Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report.

Fahr's Disease and Hypoparathyroidism - A Missing Link.

Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus.

Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.

Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B).

Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism.

Pseudohypoparathyroidism: a diagnosis to consider once a PTH elevation is detected.

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.

Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant.

Fahr syndrome discovered in adulthood revealing a rare GNAS mutation in pseudohypoparathyroidism type 1a in a Tunisian family.

Albright's hereditary osteodystrophy: an entity to recognize.

Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a.

Clinical and genetic analysis of pseudohypoparathyroidism complicated by hypokalemia: a case report and review of the literature.

Paroxysmal Kinesigenic Dyskinesia Secondary to Pseudohypoparathyroidism Responding to Correction of Calcium.

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.

A novel GNAS variant presents with disorders of GNAS inactivation and cardiomyopathy.

Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.

Intracranial calcifications in pseudohypoparathyroidism type 1b: Report of four cases.

Aberrant Bone Regulation in Albright Hereditary Osteodystrophy dueto Gnas Inactivation: Mechanisms and Translational Implications.

Intralesional sodium thiosulfate treatment of calcinosis cutis in pseudopseudohypoparathyroidism.

A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism.

A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene.

Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.

Pseudohypoparathyroidism type 1 B mimicking Fahr's disease in a 28-year-old female: A case report.

Autosomal dominant pseudohypoparathyroidism type 1b due to STX16 deletion: a case presentation and literature review.

A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B.

Parental Origin of Gsα Inactivation Differentially Affects Bone Remodeling in a Mouse Model of Albright Hereditary Osteodystrophy.

Genetics of monogenic disorders of calcium and bone metabolism.

Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.

Pseudohypoparathyroidism type 1a caused by a GNAS gene mutation: over 40 years without a proper diagnosis.

Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib.

Parathyroid Hormone Resistance and Autoantibodies to the PTH1 Receptor.

Calcitriol and Levothyroxine Dosing for Patients With Pseudohypoparathyroidism.

Sporadic Pseudohypoparathyroidism Type 1B in Monozygotic Twins: Insights Into the Pathogenesis of Methylation Defects.

Molecular genetic analysis and growth hormone response in patients with syndromic short stature.

A unique case of bilateral triceps avulsion fracture in a patient with pseudohypoparathyroidism.

Hypoparathyroidism and pseudohypoparathyroidism in pregnancy: an Italian retrospective observational study.

Obesity-Associated GNAS Mutations and the Melanocortin Pathway.

Hormone resistance in children: what primary care physicians need to know.

Brachydactyly in Pseudopseudohypoparathyroidism.

Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions.

Preoperative matching studies in the diagnosis of parathyroid adenoma for primary hyperparathyroidism: Can we avoid intraoperative PTH monitoring?

Pseudohypoparathyroidism mimicking cervical diffuse idiopathic skeletal hyperostosis with dysphagia: A case report and literature review.

Is All Hypocalcemia Due to Low Parathyroid Hormone?: An Unusual Case of Pseudohypoparathyroidism in a Young and Healthy Patient.

Hypocalcemia as a Cause of Complex Febrile Seizures in a Toddler.

Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation.

A Case of Sporadic Pseudohypoparathyroidism Type 1B Presented with Hypokalemia.

[Respiratory impairment in a patient with acrodysostosis: A rare association of an uncommon pathology].

A Distinct Variant of Pseudohypoparathyroidism (PHP) First Characterized Some 41 Years Ago Is Caused by the 3-kbSTX16 Deletion.

Mild progressive osseous heteroplasia overlap syndrome with PTH and TSH resistance appearing during adolescence and not early childhood.