[SOX2 defect and anophthalmia and microphthalmia].
Zhonghua Yan Ke Za Zhi
; 48(11): 1049-52, 2012 Nov.
Article
em Zh
| MEDLINE
| ID: mdl-23302280
ABSTRACT
As a severe congenital developmental disorder, anophthalmia and microphthalmia are usually accompanied with vision impairment and hypoevolutism of the orbit in the affected side. Many genes are involved in anophthalmia and microphthalmia, in which, SOX2 is an important one. The defect of SOX2 causes multiple system disorders, including anophthalmia and microphthalmia. We describe the relationship between the SOX2 defect and anophthalmia/microphthalmia, in order to offer some proposals for the differential diagnosis, treatment and research of anophthalmia and microphthalmia.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anoftalmia
/
Microftalmia
/
Fatores de Transcrição SOXB1
Limite:
Humans
Idioma:
Zh
Ano de publicação:
2012
Tipo de documento:
Article