Xp22.3 interstitial deletion: A recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation

X-linked ichthyosis is a genetic disorder affecting the skin and caused by a deficit in the steroid sulfatase enzyme (STS), often associated with a recurrent microdeletion at Xp22.31. Most of the STS deleted patients have X-linked ichthyosis as the only clinical feature and it is believed that patie...

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Bibliographic Details
Published inGene Vol. 527; no. 2; pp. 578 - 583
Main Authors Ben Khelifa, Hela, Soyah, Najla, Ben-Abdallah-Bouhjar, Inesse, Gritly, Ryma, Sanlaville, Damien, Elghezal, Hatem, Saad, Ali, Mougou-Zerelli, Soumaya
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier B.V 25.09.2013
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