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Novel mutation in OCRL leading to a severe form of Lowe syndrome

AIM: To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome. METHODS: All the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Genomic DNA was isolated from peripheral blood of the pedigree members and 100 unrelat...

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Principais autores: Feng-Qi Zhou, Qi-Wei Wang, Zhen-Zhen Liu, Xu-Lin Zhang, Dong-Ni Wang, Mei-Mei Dongye, Hao-Tian Lin, Wei-Rong Chen
Formato: Artigo
Idioma:Inglês
Publicado em: Press of International Journal of Ophthalmology (IJO PRESS) 2019-07-01
coleção:International Journal of Ophthalmology
Assuntos:
lowe syndrome
oculocerebrorenal syndrome
ocrl
congenital membranous cataract
Acesso em linha:http://www.ijo.cn/en_publish/2019/7/20190701.pdf
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