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Brachytelephalangic chondrodysplasia punctata in an extremely premature infant

โœ Scribed by Mansour, Sahar ;Liberman, Deborah ;Young, Ian


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
210 KB
Volume
53
Category
Article
ISSN
0148-7299

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We report on a male infant with X-linked ichthyosis, X-linked Kallmann syndrome, and Xlinked recessive chondrodysplasia punctata (CPXR). Chromosome analysis showed a terminal deletion with a breakpoint at Xp22.31, inherited maternally. This patient confirms the localization of XLI, XLK, and CPXR to