A Case of Restrictive Dermopathy-Reference-Cited by-同舟云学术

A Case of Restrictive Dermopathy

Published:2018-06-01 Issue:3 Volume:80 Page:205-208
ISSN:0386-9784
Container-title:Nishi Nihon Hifuka
language:en
Short-container-title:Nishinihon J Dermatol

Author:

KASHINO Kaori¹,TOI Yoichiro²,HAYASHIDANI Michiko³,TAKADA Shinichi⁴,TAMURA Maiko⁴,KONO Michihiro⁵,AKIYAMA Masashi⁵

Affiliation:

1. Devision of Dermatology, Onomichi Municipal Hospital

2. Devision of Dermatology, Hiroshima City Hospital

3. Devision of Diagnostic Pathology, Hiroshima City Hospital

4. Perinatal Medical Center, Hiroshima City Hospital

5. Department of Dermatology, Nagoya University Graduate School of Medicine

Publisher

Western Japan Division of JDA

Subject

Dermatology

Link

https://www.jstage.jst.go.jp/article/nishinihonhifu/80/3/80_205/_pdf

Reference16 articles.

1. 1) Chong JX, Ouwenga R, Anderson RL, Waggonner DJ, Ober C : A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am J Hum Genet, 2013 ; 91 :608-620.

2. 3) Witt DR, Hayden MR, Holbrook KA, Dale BA, Baldwin VJ, Taylor GP : Restrictive dermopathy : a newly recognized autosomal recessive skin dysplasia. Am J Med Genet, 1986 ; 24 : 631- 648.

3. 4) Isaacs H Jr. : Restrictive dermopathy, Gilbert-Barness E ed : Potter's Pathology of the Fetus, Infant and Child, 2nd ed,Philadelphia, Mosby Elsevier, 2007, 1764.

4. 5) Smigiel R, Jakubiak A, Esteves-Viera V et al : Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature. Am J Med Genet, 2010 ; 152A : 447-452.

5. 6) Holbrook KA, Dale BA, Witt DR, Hayden MR, Toriello HV :Arrested epidermal morphogenesis in three newborn infants with a fetal genetic disorder (restrictive dermopathy). J Invest Dermatol, 1987 ; 88 : 330-339.