Literature DB >> 2225527

Phenotypic variability in Meckel-Gruber syndrome.

T I Farag1, R Usha, R Uma, S A Mady, K al-Nagdy, M H el-Badramany.   

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.

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Year:  1990        PMID: 2225527     DOI: 10.1111/j.1399-0004.1990.tb03568.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  3 in total

1.  Meckel syndrome and neural tube defects in Kuwait.

Authors:  A S Teebi; Q A al Saleh; H Odeh
Journal:  J Med Genet       Date:  1992-02       Impact factor: 6.318

2.  Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

Authors:  Ingeborg Barisic; Ljubica Boban; Maria Loane; Ester Garne; Diana Wellesley; Elisa Calzolari; Helen Dolk; Marie-Claude Addor; Jorieke Eh Bergman; Paula Braz; Elizabeth S Draper; Martin Haeusler; Babak Khoshnood; Kari Klungsoyr; Anna Pierini; Annette Queisser-Luft; Judith Rankin; Anke Rissmann; Christine Verellen-Dumoulin
Journal:  Eur J Hum Genet       Date:  2014-09-03       Impact factor: 4.246

Review 3.  Autosomal recessive disorders among Arabs: an overview from Kuwait.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

  3 in total

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