Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.
Pehlivan D, Sandoval A, Maroofian R, Lecoquierre F, Al Shamsi AM, Lee GS, Yesilbas O, Taylor P, McDougal MB, Bahrambeigi V, Aryani O, Ramirez JF, Salih KH, Al Alam C, Morsy H, Hussien H, Omar T, Abdelrazek IM, Brehin AC, Marafi D, Kalayci T, Rahma JA, Talbeya JK, Dabbah H, Verspyck E, Moosavian T, Fatih JM, Mitani T, Akay G, Calame DG, Guerrot AM, Chung WK, Houlden H, Lupski JR, Shalata A, Yoon WH.
Pehlivan D, et al.
Am J Hum Genet. 2026 Mar 5;113(3):548-561. doi: 10.1016/j.ajhg.2026.01.017. Epub 2026 Feb 23.
Am J Hum Genet. 2026.
PMID: 41734767
Free PMC article.
We had previously reported limited clinical information from two individuals with homozygous frameshift variants in NRDC. With inclusion of previously published individuals, here we report 14 individuals (10 females, four males) from nine unrelated families carrying homozy …
We had previously reported limited clinical information from two individuals with homozygous frameshift variants in NRDC. With inclus …