Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9

Claire Lecointre, Oliver Pichon, Antoine Hamel, Yves Heloury, Laurence Michel-Calemard, Yves Morel, Albert David, Cedric Le Caignec

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55 Citations (Scopus)

Abstract

Campomelic dysplasia (CD) is a rate autosomal dominant osteochondrodysplasia with or without XY disorders of sexual development (DSD).
Original languageEnglish
Pages (from-to)1183 - 1189
Number of pages7
JournalAmerican Journal of Medical Genetics Part A
Volume149
Issue number6
DOIs
Publication statusPublished - 2009
Externally publishedYes

Cite this

Lecointre, C., Pichon, O., Hamel, A., Heloury, Y., Michel-Calemard, L., Morel, Y., David, A., & Le Caignec, C. (2009). Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. American Journal of Medical Genetics Part A, 149(6), 1183 - 1189. https://doi.org/10.1002/ajmg.a.32830