Associated Papers
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
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.
Chassaing N et al.
Human Mutation, 2009
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.
Golzio C et al.
American Journal of Human Genetics, 2007
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