Associated Papers
Perinatal palliative care for family with prenatal diagnosis of Matthew-Wood syndrome.
Korzeniewska-Eksterowicz A et al.
Journal of Genetic Counseling, 2024
Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.
Nedelec B et al.
Human Genetics, 2019
Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome.
Sadowski S et al.
Birth Defects Research, 2017
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
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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