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Clinical Genetics, Volume 108, Issue 3, Page 266-278, September 2025.Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl +15 more
wiley +1 more source
Citation: 'arachnodactyly' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10423 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms. Requests for commercial
openaire +1 more source
Arachnodactyly in a Bantu child.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2000 No Abstract.
openaire +2 more sources
Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity. [PDF]
Front Med (Lausanne)Wang NM +7 more
europepmc +1 more source
Primary adrenal insufficiency resulting in diagnosis of rare <i>ABCD1</i> pathogenic variant in X-linked adrenoleukodystrophy. [PDF]
JCEM Case RepJin A, Bhatnagar A, Bryant A, Soe K.
europepmc +1 more source
Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report. [PDF]
J Med Case RepSemyachkina AN +9 more
europepmc +1 more source