Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (NEDMCR) is a rare hereditary disorder caused by mutations in GEMIN4, a component of the SMN complex. The SMN complex is responsible for the assembly and maturation of the Sm-class of small nuclear ribonucleoproteins, the key components of the spliceosomes.
Patel N, Anand D, Monies D, Maddirevula S, Khan AO, Algoufi T, Alowain M, Faqeih E, Alshammari M, Qudair A, Alsharif H, Aljubran F, Alsaif HS, Ibrahim N, Abdulwahab FM, Hashem M, Alsedairy H, Aldahmesh MA, Lachke SA, Alkuraya FS
タイトル
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Aldhalaan H, AlBakheet A, AlRuways S, AlMutairi N, AlNakiyah M, AlGhofaili R, Cardona-Londono KJ, Alahmadi KO, AlQudairy H, AlRasheed MM, Colak D, Arold ST, Kaya N
タイトル
A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
