Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1993.tb04442.x/fullpdf
Reference27 articles.
1. Anonymous X chromosomal probes revealing DNA polymorphisms, one of which is a deletion of more than 3 kb;Ahrens;Cytogenet Cell Genet,1985
2. X-linked ichthyosis due to steroid sulphatase deficiency, associated with Kallmann's syndrome (hypogonadotrophic hypogonadism and anosmia): linkage relationship 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 Kallmann's syndrome;Ballabio;Hum Genet,1987
4. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome;Ballabio;Proc Natl Acad Sci USA,1989
5. Hereditary bimanual synkinesis combined with hypogonadotrophic hypogonadism and anosmia in four brothers;Conrad;J Neurol,1978
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2. Novel interstitial deletion in Xp22.3 in a typical X-linked recessive family with Kallmann syndrome;Andrologia;2018-02-14
3. Diagnosis of idiopathic infantile nystagmus and ocular albinism: a clinical challenge;Expert Review of Ophthalmology;2009-08
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