Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.

Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.

Item
http://www.wikidata.org/entity/Q34180405
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinismAn Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometryThe human Y chromosome, in the light of evolution.Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.Evolutionary analysis across mammals reveals distinct classes of long non-coding RNAs.Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.X chromosome-linked Kallmann syndrome: stop mutations validate the candidate geneDermatology and the human gene map.Severe Neurological Phenotype in a Girl with Xp22.31 Triplication.Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus
P2860

Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.

Item
http://www.wikidata.org/entity/Q34180405
description
1987 nî lūn-bûn
@nan
1987 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1987 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1987年の論文
@ja
1987年学术文章
@wuu
1987年学术文章
@zh-cn
1987年学术文章
@zh-hans
1987年学术文章
@zh-my
1987年学术文章
@zh-sg
1987年學術文章
@yue
name
Deletions of the steroid sulph ...... ciated with Kallmann syndrome.
@ast
Deletions of the steroid sulph ...... ciated with Kallmann syndrome.
@en
Deletions of the steroid sulph ...... ciated with Kallmann syndrome.
@nl
type
label
Deletions of the steroid sulph ...... ciated with Kallmann syndrome.
@ast
Deletions of the steroid sulph ...... ciated with Kallmann syndrome.
@en
Deletions of the steroid sulph ...... ciated with Kallmann syndrome.
@nl
prefLabel
Deletions of the steroid sulph ...... ciated with Kallmann syndrome.
@ast
Deletions of the steroid sulph ...... ciated with Kallmann syndrome.
@en
Deletions of the steroid sulph ...... ciated with Kallmann syndrome.
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P433
P478
P577
P6179
P698
P356
P1433
P1476
Deletions of the steroid sulph ...... ciated with Kallmann syndrome.
@en
P2093
P2888
P304
P31
P356
P433
P478
P577
P6179
P698