NEW AUTOSOMAL RECESSIVE SYNDROME OF MENTAL-RETARDATION, EPILEPSY, SHORT STATURE, AND SKELETAL DYSPLASIA

被引：7

作者：

GURRIERI, F

SAMMITO, V

BELLUSSI, A

NERI, G

机构：

[1] UNIV CATTOLICA SACRO CUORE, FAC MED A GEMELLI, IST GENET MED, LARGO F, VITO 1, I-00168 ROME, ITALY

[2] OSPED S CAMILLO ROMA, SERV RADIOL, ROME, ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 03期

关键词：

MULTIPLE CONGENITAL ANOMALIES; MENTAL RETARDATION SYNDROME; EPILEPSY; SKELETAL DYSPLASIAS; AUTOSOMAL RECESSIVE INHERITANCE;

D O I：

10.1002/ajmg.1320440310

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe 4 sibs, 2 males and 2 females, affected with a new autosomal recessive MCA/MR syndrome of short stature, cerebral atrophy, epilepsy, skeletal abnormalities, and moderate to severe mental retardation.

引用

页码：315 / 320

页数：6