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Last Updated: 01/07/2026
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Found 659 publications
Macular and optic nerve hypoplasia in chromosome 2p partial trisomy.
Journal: Ophthalmic genetics
Published: November 25, 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
Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.
Journal: Neuropediatrics
Published: February 06, 2025
Stüve-Wiedemann syndrome with a novel variant in the LIFR gene: A case report.
Journal: Medicine
Published: January 31, 2025
Last Updated: 01/07/2026