Biallelic truncating variants in FILIP1 identified as cause of novel arthrogryposis phenotype with microcephaly
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G
Hum Genet. 2023 Mar 21. doi: 10.1007/s00439-023-02528-2. Epub ahead of print.