Camptodactyly Taurinuria Latest Advances

Freeman-Sheldon Syndrome: A Rare Case Report with Dental Perspective.

Journal: Prague medical report

Published: January 02, 2026

Macular and optic nerve hypoplasia in chromosome 2p partial trisomy.

Journal: Ophthalmic genetics

Published: November 25, 2025

National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician

Journal: Journal francais d'ophtalmologie

Published: November 23, 2025

When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.

Journal: European journal of pediatrics

Published: October 22, 2025

Early Diagnostic Markers in Crisponi Syndrome: Two Cases and Review.

Journal: Journal of clinical medicine

Published: September 26, 2025

From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.

Journal: Children (Basel, Switzerland)

Published: September 25, 2025

Expert consensus on the clinical diagnosis and treatment of Congenital syndactyly (2025 Edition)

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: September 14, 2025

A frameshift mutation in the PRG4 gene causing camptodactyly-arthropathy-coxa vara-pericarditis syndrome: a case report.

Journal: Modern rheumatology case reports

Published: June 27, 2025

Malignant hyperthermia and the dilemma of Dantrolene's unavailability: A case report.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: June 11, 2025

Haploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case report.

Journal: Journal of stomatology, oral and maxillofacial surgery

Published: May 30, 2025

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

Journal: Clinical genetics

Published: April 25, 2025

Labor Analgesia in a Patient With Beals Syndrome: A Case Report of Management Challenges.

Journal: Cureus

Published: February 19, 2025