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

• Үндсэн зохиолчид: Siying Lin (Зохиогч), Gaurav V. Harlalka (Зохиогч), Abdul Hameed (Зохиогч), Hadia Moattar Reham (Зохиогч), Muhammad Yasin (Зохиогч), Noor Muhammad (Зохиогч), Saadullah Khan (Зохиогч), Emma L. Baple (Зохиогч), Andrew H. Crosby (Зохиогч), Shamim Saleha (Зохиогч)
• Формат: Ном
• Хэвлэсэн: BMC, 2018-09-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...