| Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency. | |
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MedLine Citation:
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PMID: 3035918 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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J E Wise; R Matalon; A M Morgan; E R McCabe |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of diseases of children (1960) Volume: 141 ISSN: 0002-922X ISO Abbreviation: Am. J. Dis. Child. Publication Date: 1987 Jul |
Date Detail:
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Created Date: 1987-07-22 Completed Date: 1987-07-22 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0370471 Medline TA: Am J Dis Child Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 744-7 Citation Subset: AIM; IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Insufficiency
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congenital*,
genetics Child, Preschool Glycerol Kinase / deficiency* Growth Disorders / genetics Humans Male Phenotype Phosphotransferases / deficiency* Syndrome |
| Chemical | |
Reg. No./Substance:
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EC 2.7.-/Phosphotransferases; EC 2.7.1.30/Glycerol Kinase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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