Deep phenotyping of ichthyosis follicularis with atrichia and photophobia syndrome associated with MBTPS2 mutations-Reference-Cited by-同舟云学术

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Deep phenotyping of ichthyosis follicularis with atrichia and photophobia syndrome associated with MBTPS2 mutations

Published:2020-01-06 Issue:3 Volume:47 Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Murase Chiaki¹^ORCID,Takeichi Takuya¹^ORCID,Okuno Yusuke²,Ikumi Kyoko³,Morita Akimichi³^ORCID,Akiyama Masashi¹^ORCID

Affiliation:

1. Department of Dermatology Nagoya University Graduate School of Medicine NagoyaJapan

2. Medical Genomics Center Nagoya University Hospital NagoyaJapan

3. Department of Geriatric and Environmental Dermatology Nagoya City University Graduate School of Medical Sciences Nagoya Japan

Funder

Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.15210

Reference5 articles.

1. Three cases of "ichthyosis follicularis" associated with baldness;Macleod J;Br J Dermatol,1909

2. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

3. Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations inMBTPS2

4. Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation inMBTPS2

5. IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants;Journal of Investigative Dermatology;2021-06

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