Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

BACKGROUND: Autosomal recessive anophthalmia and microphthalmia are rare developmental eye defects occurring during early fetal development. Syndromic and non-syndromic forms of anophthalmia and microphthalmia demonstrate extensive genetic and allelic heterogeneity. To date, disease mutations have b...

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Enregistré dans:
Détails bibliographiques
Publié dans:BMC Med Genet
Auteurs principaux: Lin, Siying, Harlalka, Gaurav V., Hameed, Abdul, Reham, Hadia Moattar, Yasin, Muhammad, Muhammad, Noor, Khan, Saadullah, Baple, Emma L., Crosby, Andrew H., Saleha, Shamim
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2018
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6131798/
https://ncbi.nlm.nih.gov/pubmed/30200890
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0678-6
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