Phenotypic variability in Meckel–Gruber syndrome
- 1 September 1990
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 38 (3) , 176-179
- https://doi.org/10.1111/j.1399-0004.1990.tb03568.x
Abstract
Five Bedouin sibs are described with Meckel-Gruber syndrome (MGS), and 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.Keywords
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