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Chondrodysplasia punctata (CDPX2) in a male caused by single-gene mosaicism: A 20-year follow-up.
Anthony D Honigman
Ryan De Cruz
Rodney Sinclair
Ingrid Winship
Published in:
The Australasian journal of dermatology (2018)
Keyphrases
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copy number
genome wide
genome wide identification
gene expression
transcription factor
genome wide analysis