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

• Autores principales: Siying Lin (Autor), Gaurav V. Harlalka (Autor), Abdul Hameed (Autor), Hadia Moattar Reham (Autor), Muhammad Yasin (Autor), Noor Muhammad (Autor), Saadullah Khan (Autor), Emma L. Baple (Autor), Andrew H. Crosby (Autor), Shamim Saleha (Autor)
• Formato: Libro
• Publicado: BMC, 2018-09-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Abstract 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 mutation...