Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

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 re...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10060356/
https://www.ncbi.nlm.nih.gov/pubmed/36943452
http://dx.doi.org/10.1007/s00439-023-02528-2

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