Chondrodysplasia punctata ( CDPX 2) in a male caused by single‐gene mosaicism: A 20‐year follow‐up-Reference-Cited by-同舟云学术

Chondrodysplasia punctata ( CDPX 2) in a male caused by single‐gene mosaicism: A 20‐year follow‐up

Published:2018-10-07 Issue:2 Volume:60 Page:
ISSN:0004-8380
Container-title:Australasian Journal of Dermatology
language:en
Short-container-title:Australas J Dermatol

Author:

Honigman Anthony¹^ORCID,De Cruz Ryan²,Sinclair Rodney³⁴,Winship Ingrid⁵

Affiliation:

1. Faculty of Medicine Nursing & Health Sciences Monash University Melbourne Victoria Australia

2. Department of Dermatology Royal Melbourne Hospital Melbourne Victoria Australia

3. Department of Medicine University of Melbourne Melbourne Victoria Australia

4. Department of Dermatology Epworth HealthcareMelbourne Victoria Australia

5. Department of Genetic Medicine Royal Melbourne Hospital Melbourne Victoria Australia

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ajd.12938

Reference5 articles.

1. The Conradi‐Hünermann‐Happle syndrome is caused by mutations in the gene that encodes a Δ8‐Δ7 sterol isomerase and is biochemically related to the CHILD syndrome;Traupe H;Eur. J. Dermatol.,2000

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

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

4. Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects)

5. X‐chromosome dominant chondrodysplasia punctata (Happle) in a boy;Tronnier M;Hautarzt,1992

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3. Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation;American Journal of Medical Genetics Part A;2019-04-29