Article
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Human genetics - 1 Apr 2023
Schnabel Franziska, Schuler Elisabeth, Al-Maawali Almundher, Chaurasia Ankur, Syrbe Steffen, Al-Kindi Adila, Bhavani Gandham SriLakshmi, Shukla Anju, Altmüller Janine, Nürnberg Peter, Banka Siddharth, Girisha Katta M, Li Yun, Wollnik Bernd, Yigit Gökhan
Abstract excerpt
Arthrogryposis multiplex congenita forms a broad group of clinically and etiologically heterogeneous disorders characterized by congenital joint contractures that involve at least two different parts of the body. Neurological and muscular disorders are commonly underlying arthrogryposis. Here, we report five affected individuals from three independent families sharing an overlapping phenotype with congenital...
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