Case of Conradi–Hünermann–Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*)-Reference-Cited by-同舟云学术

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Case of Conradi–Hünermann–Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*)

Published:2019-02-27 Issue:8 Volume:46 Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Satake Mao¹^ORCID,Kudo Kyoko¹^ORCID,Sasaki Takashi²,Furue Masutaka³^ORCID,Kubo Akiharu⁴^ORCID

Affiliation:

1. Department of Dermatology Fukuoka Children's Hospital Fukuoka Japan

2. Center for Supercentenarian Medical Research Keio University School of Medicine Tokyo Japan

3. Department of Dermatology Kyusyu University Graduate School of Medicine Fukuoka Japan

4. Department of Dermatology Keio University School of Medicine Tokyo Japan

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.14836

Reference4 articles.

1. Case of dominant dystrophic epidermolysis bullosa with amniotic band syndrome

2. The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi–Hünermann–Happle syndrome

3. Case of Conradi-Hünermann-Happle syndrome with alopecia: Histological examination of affected follicles

4. NF-κB-related genetic diseases

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