Associated Papers
Perinatal palliative care for family with prenatal diagnosis of Matthew-Wood syndrome.
Korzeniewska-Eksterowicz A et al.
Journal of Genetic Counseling, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
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
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
Trakadis YJ et al.
Bmc Medical Genomics, 2014
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.
Ng WY et al.
Clinical Genetics, 2013
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?
Segel R et al.
American Journal of Medical Genetics. Part A, 2009
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
An essential ligand-binding domain in the membrane receptor for retinol-binding protein revealed by large-scale mutagenesis and a human polymorphism.
Kawaguchi R et al.
The Journal of Biological Chemistry, 2008
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
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.
Pasutto F et al.
American Journal of Human Genetics, 2007
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