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Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: Molecular genetic evidence for deletions

Glycerol kinase deficiency (GKD) is an X-linked recessive trait that occurs in association with congenital adrenal hypoplasia (AH) and developmental delay with or without congenital dystrophic myopathy. Several such patients have recently been reported to have cytological deletions of chromosome reg...

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Bibliografiske detaljer
Main Authors: Francke, Uta, Harper, John F., Darras, Basil T., Cowan, Janet M., McCabe, Edward R. B., Kohlschütter, Alfried, Seltzer, William K., Saito, Fumiko, Goto, Jun, Harpey, Jean-Paul, Wise, Joyce E.
Format: Artigo
Sprog:Inglês
Udgivet: 1987
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684111/
https://ncbi.nlm.nih.gov/pubmed/2883886
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