Saliva Proteomics Shows Immune Activation and Metabolic Shifts in Female Jalili Syndrome Patients.

Differential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.

A radiological case series of three siblings with osteogenesis imperfecta and shared paternal inheritance.

Report of the favorable pregnancy outcomes in an FKBP10-related Bruck syndrome case and a narrative review of pregnancy in severe osteogenesis imperfecta.

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature.

Addressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.

Advancing Obstetric Care: The Role of Targeted Next-Generation Sequencing in Pregnancies with Structurally Normal Fetuses.

Assessment of Collagen and Fibroblast Properties via Label-Free Higher Harmonic Generation Microscopy in Three-Dimensional Models of Osteogenesis Imperfecta and Ehlers-Danlos Syndrome.

Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report.

When teeth and kidneys fail together: a case series of amelogenesis imperfecta-renal syndromes in childhood.

Diaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers-Danlos Syndrome.

Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study.

Temporal Bone CT Findings in Hajdu-Cheney Syndrome: Case Report with Review of the Literature.

Pre-operative zoledronate is safe for children with medical complexity undergoing posterior spinal fusion for neuromuscular scoliosis.

Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review.

FKBP10 Variants: Differentiation Between Bruck Syndrome Type 1 And Osteogenesıs Imperfecta Type XI.

FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.

Accuracy of dental age estimation methods in children with chromosomal syndromes: A systematic review and network meta-analysis.

An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.

ROGDI-Related Disorder Resulting from Disruption of Complex Interactive Neuro-Dental Developmental Networks: A Review and Description of the First Missense Variant.

Mitral Valve Aneurysm With Perforation Resulting in Severe Mitral Regurgitation Secondary to Infective Endocarditis: A Report of a Rare Case.

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.

Intersecting Pathologies: COL1A1-Related Syndrome in the Setting of Childhood-Onset Hypopituitarism: Case Report and Literature Review.

New Lens On Congenital Mild Bone Fragility: a Novel Col1a1 Knockout Mouse Model for Osteogenesis Imperfecta Type 1.

Unique Dental and Craniofacial Manifestations of Hypoplastic Amelogenesis Imperfecta in a Patient With Prune Belly Syndrome: A Rare Case Report.

Clinical application of radiofrequency echographic multi-spectrometry (REMS) for diagnosis and follow-up in several rare bone disorders: a case series.

A rare case of McCune-Albright syndrome in a young male with hyperthyroidism and hypertrophic scars.

A pictorial essay of thoracic wall diseases: multiple pathologies in the same anatomical site.

Kohlschütter-Tönz Syndrome: A Rare Clinical Entity with Amelogenesis Imperfecta in Two Siblings, Dental Management and Scoping Review.

Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.

Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.

Co-occurrence of Congenital Osteogenesis Imperfecta and Maternal Antiphospholipid Syndrome: A Novel Case Report.

Application of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review.

Demographic and Clinical Profile of Patients with Osteogenesis Imperfecta Hospitalized Due to Coronavirus Disease (COVID)-19: A Case Series of 13 Patients from Brazil.

Clinical, Biochemical and Radiological Features of LRP5 Gene Variants in Children.

Gene editing for collagen disorders: current advances and future perspectives.

Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.

Integrating Imaging and Genomics in Amelogenesis Imperfecta: A Novel Diagnostic Approach.

Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years.

The Absence of Claudin-10 in the Enamel Organ Alters Its Integrity.

A retrospective study on the prevalence, management, and outcomes of congenital heart diseases in children at Edward Francis small teaching hospital, banjul, the Gambia.

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.

The impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series.

Neurologic outcomes in patients with skeletal dysplasias undergoing cervical fusion and occipitocervical fusion.

COL1-related overlap disorder: An emerging phenotype linked to mono- and bi-allelic COL1A1/2 variants.

Pain and physical function affecting quality of life in patients with osteogenesis imperfecta, X-linked hypophosphatemia, and hypermobile Ehlers-Danlos syndrome.

Amelogenesis Imperfecta and Epilepsy: A Diagnostic Clue to a Neurogenetic Epilepsy Syndrome.

Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation.

Six at Sixty. Commentary on osteogenesis imperfecta 1975-2025.

Further Evidence of Early-Onset Osteoporosis and Bone Fractures as a New FGFR2-Related Phenotype.

Ensuring diverse representation and minimizing conflicts of interest in clinical practice guidelines.

Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II.

Aortic root dilatation and mitral valve prolapse in three siblings with dental anomalies and short stature syndrome due to a homozygous novel LTBP3 variant.

A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.

Indirect Hexapod Frame-assisted Reduction of Chronic Radial Head Dislocations in Children: 20-year Experience and Technical Tips.

Recurrent First-trimester Cystic Hygroma with Normal Chromosomes Identified in Two Cases with a Recessive Genetic Syndrome.

Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani Families.

KMT2D Regulates Tooth Enamel Development.

The craniofacial, dental and systemic manifestations of Enamel Renal Syndrome: A Scoping review.

Case Report: A usual procedure in an unusual situation: a patient with a rare Ehlers Danlos/osteogenesis imperfecta overlap undergoing aortic valve replacement.

The ROGDI protein mutated in Kohlschutter-Tonz syndrome is a novel subunit of the Rabconnectin-3 complex implicated in V-ATPase assembly.

Ano5 deficiency disturbed bone formation by inducing osteoclast apoptosis in Gnathodiaphyseal dysplasia.

Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.

Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders.

Dental Management of Genetic Dental Disorders: A Critical Review.

Anesthetic management in pregnancy with osteogenesis imperfecta type XI: A comprehensive case report.

Enamel renal gingival syndrome in Indian scenario: A systematic review.

The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.

Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.

Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa.

Cellular and Molecular Effects of the Bruck Syndrome-Associated Mutation in the PLOD2 Gene.

Childhood early oral ageing syndrome: prevalence and association with possible aetiological factors and consequences for the vertical dimension of occlusion: protocol for a cross-sectional study.

The impact of obesity on sleep, pulmonary and chest wall restriction in Osteogenesis Imperfecta: a pilot study.

Molecular Study of FAM20A Gene and Biochemical Analysis for Amelogenesis Imperfecta Patients.

Enamel Renal Syndrome: A Case Report.

Functional and pathogenic insights into CNNM4 variants in Jalili syndrome.

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model.

Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.

Clinical and Histopathologic Findings in Jalili Syndrome.

Rigid intramedullary nailing of lower limb segments in children and adolescents with metabolic bone disease.

Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.

Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndrome.

A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis.

Acute Angle Closure Glaucoma in a Patient With Jalili-Smith Syndrome.

Musculoskeletal Issues in Children and Adolescents: Genetic Musculoskeletal Disorders.

First Trimester Fetal Clubfoot: A Novel Presentation of Severe Osteogenesis Imperfecta.

Genetic disorders in maternal medicine.

Bruck syndrome in pregnancy.

Fixed prosthodontic rehabilitation using a facially driven fully digital workflow of a patient with syndromic amelogenesis imperfecta associated with a rare form of ectodermal dysplasia, tricho-dento-osseous (TDO) syndrome.

Generation of bone-specific lysyl hydroxylase 2 knockout mice and their phenotypes.

Skeletal pathology in mouse models of Gould syndrome is partially alleviated by genetically reducing TGFβ signaling.

Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.

Mini-implant assisted palate expansion and digital design in junctional epidermolysis bullosa and amelogenesis imperfecta: Case report.

Reviewing hereditary connective tissue disorders: Proposals of harmonic medicolegal assessments.

Congenital Contractures and Fractures: A Variant of Bruck Syndrome Type 2.

A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.

Presentation of Rare Phenotypes Associated with the FKBP10 Gene.

Advances in clinical diagnosis and management of amelogenesis imperfecta in children and adolescents.

Orthodontic findings and treatment need in patients with amelogenesis imperfecta: a descriptive analysis.

Caregiver Burden, Parenting Stress and Coping Strategies: The Experience of Parents of Children and Adolescents with Osteogenesis Imperfecta.

A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle.

Enamel Renal Gingival Syndrome in an Adolescent.

Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders.

Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis.

Management of oral manifestations of a child with Heimler Syndrome-2.

Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass.

A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report.

[Analysis of phenotype and pathogenic variant in a case of Heimler syndrome].

Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1.

RNA-based bone histomorphometry: method and its application to explaining postpubertal bone gain in a G610C mouse model of osteogenesis imperfecta.

In-depth investigation of FAM20A insufficiency effects on deciduous dental pulp cells: Altered behaviours, osteogenic differentiation, and inflammatory gene expression.

Navigating Complexity: A Case Report on a Comprehensive Dental Management Approach to Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome.

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.

Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs.

The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.

[Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review].

[Features and results of surgical rehabilitation of hearing loss in osteogenesis imperfecta].

Dentofacial manifestations in a child with Jalili syndrome.

Comprehensive Preventive and Therapeutic Oral Health Care: A Case Report of Mucopolysaccharidosis Type IV A in a Pediatric Patient.

Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.

Asymptomatic Infant Rib Fractures Are Primarily Non-abuse-Related and Should Not Be Used to Assess Physical Child Abuse.

Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease.

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.

Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review.

A Review of Selected Dental Anomalies With Histologic Features in the Pediatric Patient.

De novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series.

Left Main Spontaneous Coronary Artery Dissection in a Patient With Osteogenesis Imperfecta: Use of Multimodal Imaging.

LRP5, Bone Mass Polymorphisms and Skeletal Disorders.

Recessive COL17A1 Mutations and a Dominant LAMB3 Mutation Cause Hypoplastic Amelogenesis Imperfecta.

A novel compound heterozygous PEX1 variant in Heimler syndrome.

Misdiagnosed metabolic bone abnormality: a case report.

Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2.

Photoanthropometric craniofacial parameters in individuals with osteogenesis imperfecta.

Bilateral Distal Humeral Physeal Separation-From Birth Trauma to Family Trauma.

SOFT syndrome with kohlschutter-Tonz syndrome.

Case report: Enamel renal syndrome: a case series from sub-Saharan Africa.

Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.

Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous CA2 deletion.

B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.

Bilateral Synchronous Olecranon Apophyseal Fracture in a Teenager: A Case Report.

Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation.

Psychosocial impacts of caring for a child with a genetic disorder in Accra, Ghana.

Enamel renal syndrome: A case report with calcifications in pulp, gingivae, dental follicle and kidneys.

microRNA-382 as a tumor suppressor? Roles in tumorigenesis and clinical significance.

Genotype-phenotype analysis of selective failure of tooth eruption-A systematic review.

Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin.

[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].

Epileptic encephalopathy and amelogenesis imperfecta: What about KohlschüttereTönz syndrome? Case report and literature review.

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.

Hidradenitis suppurativa and Ehlers-Danlos syndrome: A case-control study.

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Higher SARS-CoV-2 detection of oropharyngeal compared with nasopharyngeal or saliva specimen for molecular testing: a multicentre randomised comparative accuracy study.

A case of osteogenesis imperfecta caused by a COL1A1 variant, coexisting with pituitary stalk interruption syndrome.

FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.

Molecular-based phenotype variations in amelogenesis imperfecta.

Clinical Characteristics and Treatment Outcomes of Children with Primary Osteoporosis.

Non-syndromic generalised hypotaurodontism in a case of Stage III Grade C periodontitis.

Hereditary dentin defects with systemic diseases.

Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.

[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses].

Chiari I malformation management in patients with heritable connective tissue disorders.

The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4): A Case Report.

Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature.

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Abnormal teeth and renal calcifications: Questions.

Abnormal teeth and renal calcifications: Answers.

Clinical-functional features of individuals with Osteogenesis Imperfecta and Ehlers-Danlos syndromes: A scoping review of assessment tools and ICF model.

The Tomographic Study and the Phenotype of Wormian Bones.

COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.

Cement Augmented Pedicle Screw Instrumentation in Pediatric Spine Surgery.

Examining craniofacial variation among crispant and mutant zebrafish models of human skeletal diseases.

Medication-Related Osteonecrosis of the Jaws (MRONJ) in Children and Young Patients-A Systematic Review.

Developmental Foot Deformities in Patients with Connective Tissue Disorders.

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.

Persistent falcine sinus in the newborn: 3 case reports of associated anomalies.

Osteogenesis imperfecta/ Ehlers-Danlos overlap syndrome (COL1-related disorder) and pregnancy.

Ultra-Widefield Imaging of Retinal Flecks and Corresponding Subretinal Hyperreflective Deposits in Heimler Syndrome.

Bruck Syndrome: Beyond the Obvious.

Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV).

Congenital adrenal hyperplasia. Role of dentist in early diagnosis.

Novel CNNM4 variant and clinical features of Jalili syndrome.

Hypoplastic amelogenesis imperfecta, bilateral nephrolithiasis and FGF-23-mediated hypophosphataemia: a triad of FAM20A-related enamel renal syndrome.

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage.

Arthrogryposis multiplex congenita in a child with congenital fractures: a case report.

Case report: Clinical manifestations and genotype analysis of a child with PTPN11 and SEC24D mutations.

Temporomandibular Joint Dislocation in a Patient with Keratoconus Under General Anesthesia: A Case Report.

Enamel defects in Acp4R110C/R110C mice and human ACP4 mutations.

Chemically-induced osteogenic cells for bone tissue engineering and disease modeling.

Enamel and dentin in Enamel renal syndrome: A confocal Raman microscopy view.

A Multispecialty Approach to the Identification and Diagnosis of Nonaccidental Trauma in Children.

Clinical implications of a diagnosis of taurodontism: A literature review.

First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta.

Anesthetic considerations for inadvertent severe hypertension in a patient with osteogenesis imperfecta during the perioperative period.

Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.

Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly.

Predictors of postoperative systemic inflammatory response syndrome after scoliosis surgery in adolescents with cerebral palsy: A retrospective analysis.