Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1989.tb02899.x/fullpdf
Reference36 articles.
1. X-linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings;Abe;Clin. Genet.,1976
2. X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallman syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome;Ballabio;Hum. Genet.,1986
3. Deletions of the steroid sulphatase gene in “classical” X-linked ichthyosis and in X-linked ichthyosis associated with Kallman syndrome;Ballabio;Hum. Genet.,1987
4. Duchenne muscular dystrophy, glycerol kinase deficiency and adrenal insufficiency associated with Xp21 interstitial deletion;Bartley;J. Paediatr.,1986
5. Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X chromosome;Borresen;Clin. Genet.,1987
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1. Hypogonadotropic hypogonadism in subjects with DAX1 mutations;Molecular and Cellular Endocrinology;2011-10
2. X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Report on new mutation of the DAX-1 gene in two siblings;Journal of Endocrinological Investigation;2006-01
3. DAX1 and Related Orphan Receptors;Nuclear Receptors and Genetic Disease;2001
4. Isolated and contiguous glycerol kinase gene disorders: A review;Journal of Inherited Metabolic Disease;2000-09
5. Dysmorphic features in patients with complex glycerol kinase deficiency;The Journal of Pediatrics;1995-05
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