The range of publications on arthrogryposis multiplex congenita from 1995 to 2022-A scoping review.
Hermansen MV, Wekre LL, Lidal IB.
Am J Med Genet A. 2023 Jul;191(7):1693-1703. doi: 10.1002/ajmg.a.63201. Epub 2023 Apr 3.
PMID:37009761
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Natera-de Benito D, Jurgens JA, Yeung A, Zaharieva IT, Manzur A, DiTroia SP, Di Gioia SA, Pais L, Pini V, Barry BJ, Chan WM, Elder JE, Christodoulou J, Hay E, England EM, Munot P, Hunter DG, Feng L, Ledoux D, O'Donnell-Luria A, Phadke R, Engle EC, Sarkozy A, Muntoni F.
Hum Mutat. 2022 Apr;43(4):487-498. doi: 10.1002/humu.24333. Epub 2022 Feb 3.