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Last Updated: 01/07/2026

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Found 726 publications

Epidemiology of brachydactyly type A3 in China: a nationwide multicentre population-based study among children aged 3-17 years.

Epidemiology of brachydactyly type A3 in China: a nationwide multicentre population-based study among children aged 3-17 years.

Journal: BMJ open
Published: November 14, 2025

Expert consensus on the clinical diagnosis and management of Congenital brachydactyly (2025 Edition)

Expert consensus on the clinical diagnosis and management of Congenital brachydactyly (2025 Edition)

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 14, 2025

Delayed Presentation With Atypical Extrathyroidal Manifestations of Sporadic Non-autoimmune Congenital Hyperthyroidism: A Case Report and Literature Review.

Delayed Presentation With Atypical Extrathyroidal Manifestations of Sporadic Non-autoimmune Congenital Hyperthyroidism: A Case Report and Literature Review.

Journal: Cureus
Published: August 26, 2025

Adams-Oliver Syndrome in a Newborn: A Case Report and Comprehensive Literature Review.

Adams-Oliver Syndrome in a Newborn: A Case Report and Comprehensive Literature Review.

Journal: Cureus
Published: June 20, 2025

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

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

Journal: Hormones (Athens, Greece)
Published: June 19, 2025

Clinical and genetic investigation of 4 children with microdeletion KBG syndrome

Clinical and genetic investigation of 4 children with microdeletion KBG syndrome

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: June 15, 2025

Natural History of Hyperphagia in Patients with Pseudohypoparathyroidism.

Natural History of Hyperphagia in Patients with Pseudohypoparathyroidism.

Journal: Journal of clinical medicine
Published: June 11, 2025

Inactivating GNAS variants impair GPCR signaling and cause multiple suture craniosynostosis in humans and zebrafish.

Inactivating GNAS variants impair GPCR signaling and cause multiple suture craniosynostosis in humans and zebrafish.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: June 11, 2025

A RUNX2 GFP reporter is expressed prior to osteochondral differentiation and models Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB).

A RUNX2 GFP reporter is expressed prior to osteochondral differentiation and models Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB).

Journal: bioRxiv : the preprint server for biology
Published: May 23, 2025

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.

Journal: Diagnostics (Basel, Switzerland)
Published: May 11, 2025

Recurrent pathological fractures in chronic kidney disease revealing overlapping neglected primary hyperparathyroidism and GDF5-associated skeletal dysplasia.

Recurrent pathological fractures in chronic kidney disease revealing overlapping neglected primary hyperparathyroidism and GDF5-associated skeletal dysplasia.

Journal: Archives of osteoporosis
Published: May 09, 2025

Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia.

Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia.

Journal: Frontiers in medicine
Published: May 06, 2025
Showing 1-12 of 726

Last Updated: 01/07/2026