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Phenotypic variability in Meckel–Gruber syndrome
Author(s) -
Farag T. I.,
Usha R.,
Uma R.,
Mady S. A.,
AlNagdy K.,
ElBadramany M. H.
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03568.x
Subject(s) - phenotype , genetics , biology , medicine , evolutionary biology , gene
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.