Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.
Gómez-Laguna L, Martínez-Herrera A, Reyes-de la Rosa ADP, García-Delgado C, Nieto-Martínez K, Fernández-Ramírez F, Valderrama-Atayupanqui TY, Morales-Jiménez AB, Villa-Morales J, Kofman S, Cervantes A, Morán-Barroso VF.
Gómez-Laguna L, et al.
Ophthalmic Genet. 2018 Jan-Feb;39(1):56-62. doi: 10.1080/13816810.2017.1363245. Epub 2017 Sep 18.
Ophthalmic Genet. 2018.
PMID: 28922055
Review.
The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally prese …
The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, mi …