Woodhouse and Sakati syndrome (MIM 241080).: report of a new patient

被引：18

作者：

Gül, D ^{[1
]}

Özata, M

Mergen, H

Odabasi, Z

Mergen, M

机构：

[1] Gulhane Sch Med, Dept Med Genet, Ankara, Turkey

[2] Gulhane Sch Med, Dept Endocrinol, Ankara, Turkey

[3] Gulhane Sch Med, Dept Neurol, Ankara, Turkey

[4] Gulhane Sch Med, Dept Internal Med, Ankara, Turkey

[5] Hacettepe Univ, Fac Sci, Dept Mol Biol, Ankara, Turkey

来源：

CLINICAL DYSMORPHOLOGY | 2000年 / 9卷 / 02期

关键词：

hypogonadism; diabetes mellitus; mental retardation; alopecia; dysarthria;

D O I：

10.1097/00019605-200009020-00010

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 32-year-old male with Woodhouse Sakati syndrome (MIM 241080) is described. Two of the proband's brothers also have diabetes mellitus and similar facial features, however they are not dysarthric. An affected older brother died of an unknown cause at age 30. This confirms autosomal recessive inheritance. Clin Dysmorphol 9: 123-125 (C) 2000 Lippincott Williams & Wilkins.

引用

页码：123 / 125

页数：3