Literature DB >> 3035918

Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.

J E Wise, R Matalon, A M Morgan, E R McCabe.   

Abstract

Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic facies, testicular abnormalities, short stature, psychomotor retardation, and muscular dystrophy. The resemblance of these boys to other patients described in the literature suggests that a distinct phenotypic syndrome occurs in children with congenital adrenal hypoplasia and glycerol kinase deficiency.

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Year:  1987        PMID： 3035918     DOI： 10.1001/archpedi.1987.04460070046020

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


  4 in total

1.  Mutations and phenotype in isolated glycerol kinase deficiency.

Authors:  A P Walker; F Muscatelli; A N Stafford; J Chelly; N Dahl; H K Blomquist; J Delanghe; P J Willems; B Steinmann; A P Monaco
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.

Authors:  B T Darras; U Francke
Journal:  Am J Hum Genet       Date:  1988-08       Impact factor: 11.025

Review 3.  Isolated and contiguous glycerol kinase gene disorders: a review.

Authors:  D R Sjarif; J K Ploos van Amstel; M Duran; F A Beemer; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982

4.  Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

Authors:  D R Sjarif; R J Sinke; M Duran; F A Beemer; W J Kleijer; J K Ploos van Amstel; B T Poll-The
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318
  4 in total

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