X-linked ichthyosis - Wikipedia, the free encyclopedia
X linked ichthyosis - this boy has an infant brother and maternal uncle with ... Larger deletions that include the SHOX gene can result in short stature, ...
http://en.wikipedia.org/wiki/X-linked_ichthyosis...
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An Xp; Yq translocation causing a novel contiguous gene syndrome ...
RESULTS: The subjects had generalized epilepsy, X-linked ichthyosis, ... Deleted distal Xp genes included short-stature homeobox on the X chromosome (SHOX), ...
http://www.ncbi.nlm.nih.gov/pubmed/14636323...
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Identification of a Major Recombination Hotspot in Patients with ...
One of these genes, SHOX, is believed to play a major role in growth, ... 2003), and in X-linked ichthyosis, in which the majority of the patients carry a ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=12...
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SHOX-Related Haploinsufficiency Disorders -- GeneReviews -- NCBI ...
The SHOX genes located on the pseudoautosomal regions of the X and Y .... mesomelia, generalized epilepsy, X-linked ichthyosis, normal intellect, ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
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A Turner syndrome neurocognitive phenotype maps to Xp22.3
The known TS short stature gene SHOX is located in Xp22.3. ..... [PubMed]; Webster D, France JT, Shapiro LJ, Weiss R. X-linked ichthyosis due to ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=18...
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Chondrodysplasia Punctata 1, X-Linked Recessive -- GeneReviews ...
(See also SHOX-Related Haploinsufficiency Disorders). .... Affected females have unilateral distribution of ichthyosis, ... X-linked recessive chondrodysplasia
punctata 1 (CDPX1) is inherited in an X-linked recessive manner. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
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1744-9081-3-24 1744-9081 Research A Turner syndrome neurocognitive ...
Haploinsufficiency of the short stature gene SHOX in PAR1 probably does not ..... VCX3A [variable charged X-linked gene 3A, MIM 300533] belongs to a gene
..... and VCX-B1 genes in an X-linked ichthyosis family: no difference in
deletion ...
http://www.biomedcentral.com/content/download/xml/1744-9081-...
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SHOX-Related Haploinsufficiency Disorders
epilepsy, X-linked ichthyosis, normal intellect, and attention deficits ..... LWD phenotype may be observed; e.g., a male bearing a Y-linked SHOX deletion ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
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Chondrodysplasia Punctata 1, X-Linked Recessive -- GeneReviews ...
(See also SHOX-Related Haploinsufficiency Disorders). ... The most consistent clinical features of X-linked recessive chondrodysplasia punctata ....
ichthyosis, and limb defects) [Konig et al 2000] are a result of defects in
cholesterol ...
http://www.be-md.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gen...
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Contiguous gene syndrome due to a maternally inherited 8.41 Mb ...
MLPA showed deletion of SHOX and subsequent analysis using FISH and SNP-arrays revealed ... Growth Disorders/genetics; Humans; Ichthyosis, X-Linked/genetics
...
http://www.ncbi.nlm.nih.gov/pubmed/18925676...
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