Bi-allelic loss-of-function variants of FILIP1 encoding a filamin A binding protein cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

F Schnabel, E Schuler, A Al-Maawali, A Chaurasia, S Syrbe, A Al-Kindi, GSL Bhavani, A Shukla, J Altmüller, P Nürnberg, S Banka, K Girisha, Y Li, B Wollnik, G Yigit

Research output: Contribution to journalMeeting Abstractpeer-review

Original languageEnglish
Pages (from-to)520-520
Number of pages1
JournalEuropean Journal of Human Genetics
Publication statusPublished - Jan 2024

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