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
收藏
页码：315 / 320
页数：6
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