Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family

被引：24

作者：

Borm, B

Moller, LB

Hausser, I

Emeis, M

Baerlocher, K

Horn, N

Rossi, R

机构：

[1] Klinikum Neukolln Berlin, Dept Pediat, Klin Kinder & Jugendmed, D-12051 Berlin, Germany

[2] Univ Heidelberg, Dept Dermatol, Electron Microscop Lab, Heidelberg, Germany

[3] John F Kennedy Inst, DK-2600 Glostrup, Denmark

[4] Ostschweizer Childrens Hosp, St Gallen, Switzerland

来源：

JOURNAL OF PEDIATRICS | 2004年 / 145卷 / 01期

关键词：

D O I：

10.1016/j.jpeds.2004.04.033

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Two maternal half-brothers presented with huge cephalic hematoma, fatal in one. Skin morphology disclosed lack of elastic fibres. Their maternal uncle is moderately mentally handicapped and has extensive connective tissue disorders. In an these patients, an identical missense mutation in the ATP7A gene was found and confirmed Menkes' disease.

引用

页码：119 / 121

页数：3

共 14 条

[1] Evolution of substrate specificities in the P-type ATPase superfamily [J].