Associated Papers
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 puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.
Ng WY et al.
Clinical Genetics, 2013
Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.
West B et al.
American Journal of Medical Genetics. Part A, 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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