New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

Published:2018-08-22 Issue:12 Volume:26 Page:1784-1790
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Pacault Mathilde^ORCID,Vincent Marie,Besnard Thomas,Kannengiesser Caroline,Bénéteau Claire^ORCID,Barbarot Sébastien,Latypova Xénia,Belabbas Khaldia,Lamazière Antonin,Winer Norbert,Joubert Madeleine,Bézieau Stéphane^ORCID,Isidor Bertrand,Mercier Sandra,Nizon Mathilde,Leclerc-Mercier Stéphanie,Hadj-Rabia Smail,Dufernez Fabienne

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0217-0.pdf

Reference28 articles.

1. Bruch D, Megahed M, Majewski F, Ruzicka T. Ichthyotic and psoriasiform skin lesions along Blaschko’s lines in a woman with X-linked dominant chondrodysplasia punctata. J Am Acad Dermatol. 1995;33:356–60.

2. Posey JE, Burrage LC, Campeau PM, et al. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. Am J Med Genet A. 2015;167:1309–14.

3. Has C, Bruckner-Tuderman L, Müller D, et al. The Conradi–Hünermann–Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. Hum Mol Genet. 2000;9:1951–5.

4. Aughton DJ, Kelley RI, Metzenberg A, et al. X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. Am J Med Genet A. 2003;116A:255–60.

5. Sutphen R, Amar MJ, Kousseff BG, Toomey KE. XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome). Am J Med Genet. 1995;57:489–92.

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