Associated Papers
Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.
Nedelec B et al.
Human Genetics, 2019
Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.
Pasutto F et al.
American Journal of Medical Genetics. Part A, 2018
A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.
Marcadier JL et al.
American Journal of Medical Genetics. Part A, 2016
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.
Gerth-Kahlert C et al.
Molecular Genetics & Genomic Medicine, 2013
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