Nance‐Horan syndrome: a contiguous gene syndrome involving detetion of the ametogenin gene? A case report and molecular analysis
作者:
E Franco,
S Hodgson,
N Lench,
GJ Roberts,
期刊:
Oral Diseases
(WILEY Available online 1995)
卷期:
Volume 1,
issue 1
页码: 8-11
ISSN:1354-523X
年代: 1995
DOI:10.1111/j.1601-0825.1995.tb00150.x
出版商: Blackwell Publishing Ltd
关键词: Nance‐Horan;ametogenin;chromosome Xp21.2–p22.3
数据来源: WILEY
摘要:
DESIGN: A case of Nance‐Horan syndrome in a male is presented, with some features of the condition in his carrier mother and her mother. It is proposed that Nance‐Horan syndrome might be a contiguous gene syndrome mapping to chromosome Xp21.2–p22.3.SETTING: The proband had congenital cataract micro‐phthalmia and dental abnormalities including screwdriver shaped incisors and evidence of enamet pitting hypoplasia. The region Xp2I.2–p22.3 also contains the tooth enamet protein gene, ametogenin (AMGX).RESULTS: Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deteted in this case of the Nance‐Hor
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