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XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome)

✍ Scribed by Sutphen, Rebecca ;Amar, Marcelo J. ;Kousseff, Boris G. ;Toomey, Kathleen E.

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 441 KB
Volume: 57
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320570326

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## Abstract X‐linked dominant Conradi‐Hunermann‐Happle syndrome (CDPX2; MIM 302960) is a rare chondrodysplasia punctata primarily affecting females. CDPX2 is presumed lethal in males, although a few affected males have been reported. CDPX2 is a cholesterol biosynthetic disorder due to 3‐β‐hydroxyst