Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
Seidahmed MZ, Al-Kindi A, Alsaif HS, Miqdad A, Alabbad N, Alfifi A, Abdelbasit OB, Alhussein K, Alsamadi A, Ibrahim N, Al-Futaisi A, Al-Maawali A, Alkuraya FS.
Seidahmed MZ, et al. Among authors: alhussein k.
Hum Genet. 2020 Apr;139(4):513-519. doi: 10.1007/s00439-020-02117-7. Epub 2020 Jan 20.
Hum Genet. 2020.
PMID: 31960134
Clinical Trial.