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Article

Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.

American journal of medical genetics. Part A - 1 Mar 2009

West B, Bove K E, Slavotinek A M

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19213032
DOI: 10.1002/ajmg.a.32682
PMCID: PMC2710449

Genes

STRA6

Provenance

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Related research

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Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.PMID 19213032Read ↗

Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.Semantic proximity Read ↗

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.Semantic proximity Read ↗

Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?Semantic proximity Read ↗

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.Semantic proximity Read ↗

Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia.Semantic proximity Read ↗

Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction.Semantic proximity Read ↗

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.Semantic proximity Read ↗

Homozygous truncation of SIX6 causes complex microphthalmia in humans.Semantic proximity Read ↗

Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.Semantic proximity Read ↗

Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital diaphragm eventration.Semantic proximity Read ↗

The clinical manifestations of two novel SPAST mutations.Semantic proximity Read ↗

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.Semantic proximity Read ↗

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