Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature-Reference-Cited by-同舟云学术

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

Published:2018-09-10 Issue:1 Volume:19 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Lin Siying,Harlalka Gaurav V.,Hameed Abdul,Reham Hadia Moattar,Yasin Muhammad,Muhammad Noor,Khan Saadullah,Baple Emma L.,Crosby Andrew H.,Saleha Shamim^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-018-0678-6.pdf

Reference27 articles.

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2. Bardakjian TM, Schneider A. The genetics of anophthalmia and microphthalmia. Curr Opin Ophthalmol. 2011;22(5):309–13. https://doi.org/10.1097/ICU.0b013e328349b004 .

3. Ullah E, Nadeem Saqib MA, Sajid S, Shah N, Zubair M, Khan MA, et al. Genetic analysis of consanguineous families presenting with congenital ocular defects. Exp Eye Res. 2016;146:163–71. https://doi.org/10.1016/j.exer.2016.03.014 .

4. Williamson KA, FitzPatrick DR. The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 2014;57(8):369–80. https://doi.org/10.1016/j.ejmg.2014.05.002 .

5. Yahyavi M, Abouzeid H, Gawdat G, de Preux AS, Xiao T, Bardakjian T, et al. ALDH1A3 loss of function causes bilateral anophthalmia/ microphthalmia and hypoplasia of the optic nerve and optic chiasm. Hum Mol Genet. 2013;22(16):3250–8. https://doi.org/10.1093/hmg/ddt179 .

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