Phenotypic variability in Meckel-Gruber syndrome.
作者信息
Farag T I, Usha R, Uma R, Mady S A, al-Nagdy K, el-Badramany M H
机构信息
Kuwait Medical Genetics Centre, Paediatric Department.
出版信息
Clin Genet. 1990 Sep;38(3):176-9. doi: 10.1111/j.1399-0004.1990.tb03568.x.
Abstract
Five Bedouin sibs are described with Meckel-Gruber syndrome (MGS), an autosomal recessive disorder with multiple abnormalities. Each affected sib manifested only two of the three cardinal signs of MGS: occipital encephalocele and polycystic kidneys, lacking polydactyly. The phenotypic variability of the MGS pleiotropic gene is briefly discussed.
摘要
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