X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3

X-linked ichthyosis (XLI) is an X-linked recessive skin disorder generally restricted to males, which arises from mutations in the steroid sulfatase (STS) gene located on Xp22.3. Crigler-Najjar syndrome (CN-I) is a rare autosomal recessive disease caused by the homozygous or compound heterozygous mu...

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Vydáno v:Mol Med Rep
Hlavní autoři: BAI, JINLI, QU, YUJIN, CAO, YANYAN, LI, YAN, ZHANG, WENHUI, JIN, YUWEI, WANG, HONG, SONG, FANG
Médium: Artigo
Jazyk:Inglês
Vydáno: D.A. Spandidos 2016
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Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4732863/
https://ncbi.nlm.nih.gov/pubmed/26676689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2015.4674
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