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Article

X‐linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male

19 Sept 2002

Abstract excerpt

X-linked dominant chondrodysplasia punctata (CDPX2; Happle syndrome) is recognized almost exclusively in females, who display mosaic and asymmetric features, presumed to arise secondary to random X-inactivation. CDPX2 results from mutation of an X-linked gene coding for sterol-delta(8)-delta(7) isomerase (emopamil binding protein). We describe a boy with clinical features of CDPX2 (including those presumed to...

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PMID: 12503102
DOI: 10.1002/ajmg.a.10852

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