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Last Updated: 10/31/2025

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Found 721 publications

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

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

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.

Journal: American journal of medical genetics. Part A
Published: June 01, 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

Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature.

Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature.

Journal: Advanced genetics (Hoboken, N.J.)
Published: April 13, 2025

Adams-Oliver syndrome: an unusual congenital disorder.

Adams-Oliver syndrome: an unusual congenital disorder.

Journal: Oxford medical case reports
Published: April 04, 2025
Showing 1-12 of 721

Last Updated: 10/31/2025