Sodium thiosulfate as a potential treatment for osteoma cutis in Albright hereditary osteodystrophy: A case report.

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

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

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

Late-Onset Pseudohypoparathyroidism: A Case Report.

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

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

Pseudohypoparathyroidism with normocalcemia: a rare case report from Nepal.

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

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

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.

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

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

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.

Hair follicle-resident progenitor cells are a major cellular contributor to heterotopic subcutaneous ossifications in a mouse model of Albright hereditary osteodystrophy.

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

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 of Pseudohypoparathyroidism With Normocalcemia Because of a Novel GNAS Mutation.

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

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

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

Albright hereditary osteodystrophy: Delay in the diagnosis of a rare disorder due to restricted medical services.

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

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

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

Genetics of Obesity in Humans: A Clinical Review.

2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report.

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

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

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

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

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

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.

Calcitriol and Levothyroxine Dosing for Patients With Pseudohypoparathyroidism.

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

Subcutaneous Calcification and Fixed Flexion Deformity of the Right Elbow Joint in a Child with a GNAS Mutation: A Case Report.

Progressive Osseous Heteroplasia is not an Autosomal Dominant Trait but Reflects Superimposed Mosaicism in Different GNAS Inactivation Disorders.

Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications.

An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature.

Imprinting disorders in humans: a review.

Legg-Calve-Perthes disease in an 8-year old girl with Acrodysostosis type 1 on growth hormone therapy: case report.

Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS.

Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report.

A Novel Spindle Cell Population in a Case of Primary Osteoma Cutis With GNAS Mutation.

Hypocalcemic Recurrent Generalized Seizures with Bilateral Basal Ganglia and Frontal Calcification as the Initial Manifestation of Albright's Hereditary Osteodystrophy in a Child: A Pictorial and Video-graphic Representations.

Dental and craniofacial features associated with GNAS loss of function mutations.

2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance.

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.

A Case of Soft Tissue Ossifications: A Case Report.

Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.

KBG syndrome presenting with brachydactyly type E.

Hypercalcitoninaemia in pseudohypo-parathyroidism type 1A and type 1B.

Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood.

Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3.

[Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders].

Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood.

Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation.

Brachydactyly mental retardation syndrome with growth hormone deficiency.

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

Case Report of a Satin Guinea Pig with Fibrous Osteodystrophy That Resembles Human Pseudohypoparathyroidism.

The stimulatory G protein Gsα is required in melanocortin 4 receptor-expressing cells for normal energy balance, thermogenesis, and glucose metabolism.

Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases.

Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review.

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.

Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.

Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A.

Pseudohypoparathyroidism.

Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.

Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.

Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic.

Multiple miliary osteoma cutis of the face associated with Albright hereditary osteodystrophy in the setting of acne vulgaris: a case report.

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

Gsα deficiency in the dorsomedial hypothalamus underlies obesity associated with Gsα mutations.

Diffuse Symmetric Cerebral Calcifications: An Emerging Clinical Pivot.

Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.

Nonclassic features of pseudohypoparathyroidism type 1A.

Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.

Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q.

[Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].

The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?

Total Ankylosis of the Upper Left Limb: A Case of Progressive Osseous Heteroplasia.

Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene.

Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.

Single Gene and Syndromic Causes of Obesity: Illustrative Examples.

Progressive osseous heteroplasia is not a Mendelian trait but a type 2 segmental manifestation of GNAS inactivation disorders: A hypothesis.

Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.

Gsα Deficiency in the Ventromedial Hypothalamus Enhances Leptin Sensitivity and Improves Glucose Homeostasis in Mice on a High-Fat Diet.

Abnormal Methylation Status of the GNAS Exon 1A Region in Pseudohypohyperparathyroidism Combined With Turner Syndrome.

A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects.

2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3.

[Paternal GNAS mutations: Which phenotypes? What genetic counseling?].

Pseudohypoparathyroidism type Ib in 2015.

Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.

Genetic and epigenetic defects at the GNAS locus cause different forms of pseudohypoparathyroidism.

A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.

[Clinical and radiological findings in a case of pseudohypoparathyroidism type 1a. Albright hereditary osteodystrophy].

Progressive osseous heteroplasia: diagnosis, treatment, and prognosis.

A case report of a 14 year old male with pseudohypoparathyroidism associated with multiple hormonal resistance.

Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.