Novel splice-site and missense mutations in theALDH1A3gene underlying autosomal recessive anophthalmia/microphthalmia
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Title
Novel splice-site and missense mutations in theALDH1A3gene underlying autosomal recessive anophthalmia/microphthalmia
Authors
Keywords
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Journal
BRITISH JOURNAL OF OPHTHALMOLOGY
Volume 98, Issue 6, Pages 832-840
Publisher
BMJ
Online
2014-02-26
DOI
10.1136/bjophthalmol-2013-304058
References
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Related references
Note: Only part of the references are listed.- ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
- (2013) Lucas Fares-Taie et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2013) N. Chassaing et al. CLINICAL GENETICS
- A homozygous mutation in a consanguineous family consolidates the role ofALDH1A3in autosomal recessive microphthalmia
- (2013) L. Roos et al. CLINICAL GENETICS
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- (2012) Edward Araujo et al. Taiwanese Journal of Obstetrics & Gynecology
- First implication ofSTRA6mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to theSTRA6phenotype
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- Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome
- (2010) Hana Abouzeid et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases
- (2010) J. Gonzalez-Rodriguez et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- Reversible autism among congenitally blind children? A controlled follow-up study
- (2010) R. Peter Hobson et al. JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
- CDD: a Conserved Domain Database for the functional annotation of proteins
- (2010) A. Marchler-Bauer et al. NUCLEIC ACIDS RESEARCH
- Retinoic acid signaling in mammalian eye development
- (2009) Ales Cvekl et al. EXPERIMENTAL EYE RESEARCH
- ALX4 dysfunction disrupts craniofacial and epidermal development
- (2009) Hulya Kayserili et al. HUMAN MOLECULAR GENETICS
- Phenotypic spectrum ofSTRA6mutations: from Matthew-Wood syndrome to non-lethal anophthalmia
- (2009) Nicolas Chassaing et al. HUMAN MUTATION
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