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
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.
Ng WY et al.
Clinical Genetics, 2013
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.
Chassaing N et al.
Human Mutation, 2009
Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.
West B et al.
American Journal of Medical Genetics. Part A, 2009
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