Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita-Reference-Cited by-同舟云学术

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Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita

Published:1991-02 Issue:4 Volume:86 Page:
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Stuhrmann M.,Heilbronner H.,Reis A.,Wegner R.-D.,Fischer P.,Schmidtke J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00201848.pdf

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Anesthesia for a child suffering from a deletion in the Xp21 loci resulting in Duchenne disease, glycerol kinase deficiency, and congenital adrenal hypoplasia;Pediatric Anesthesia;2011-09-01

2. A deficit of brain dystrophin 71 impairs hypothalamic osmostat;Journal of Neuroscience Research;2010-02-01

3. A;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

4. Glycerol Metabolism and the Determination of Triglycerides –Clinical, Biochemical and Molecular Findings in Six Subjects;Clinical Chemistry and Laboratory Medicine;2003-01-27

5. Lexikalischer Teil;Lexikon der Syndrome und Fehlbildungen;2003

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