Article
Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.
Ophthalmic genetics - 1 Dec 2019
Hernández V, Pascual-Camps I, Aparisi M J, Martínez-Matilla M, Martínez F, Cerón J A, Pedrola L
Abstract excerpt
Background: Nance-Horan syndrome (NHS) is an X-linked rare congenital disorder caused by mutations in the NHS gene. Clinical manifestations include congenital cataracts, facial and dental dysmorphism and, in some cases, intellectual disability. The aim of the present work was to identify the genetic cause of this disease in two unrelated Spanish NHS families and to determine the relative involvement of this gene...
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