ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant

Author:

Piryaei FahimehORCID,Pakmanesh Rezvan,Salehirad Maryam,Akbari Soheila,Edizadeh Masoud,Khodadadi Hamidreza

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference22 articles.

1. Mutations in ALDH1A3 cause microphthalmia;Aldahmesh;Clin. Genet.,2013

2. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes;Asai-Coakwell;Hum. Mol. Genet.,2009

3. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation;Ayala-Ramirez;Mol. Vis.,2006

4. CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds;Bar-Yosef;Hum. Genet.,2004

5. The genetics of anophthalmia and microphthalmia;Bardakjian;Curr. Opin. Ophthalmol.,2011

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