Åland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia-Reference-Cited by-同舟云学术

Åland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia

Published:1990-05 Issue:1 Volume:36 Page:23-28
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Pillers De-Ann M.,Weleber Richard G.,Powell Berkley R.,Hanna Cheryl E.,Magenis R. Ellen,Buist Neil R. M.

Publisher

Wiley

Subject

Genetics (clinical)

Reference38 articles.

1. Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion

2. Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia

3. Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome

4. (1968): ERG in a case of X-chromosomal pigment deficiency of fundus in combination with myopia, dyschromatopsia and defective dark-adaptation. In (ed): “The Clinical Value of Electroretinography. Proceedings of the 5th ISCERG Symposium, Ghent 1966.” Ghent: S. Karger, pp 369-377.

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