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

J Dermatol. 2020 Mar;47(3):e87-e88. doi: 10.1111/1346-8138.15210. Epub 2020 Jan 6.

Authors

Chiaki Murase¹, Takuya Takeichi¹, Yusuke Okuno², Kyoko Ikumi³, Akimichi Morita³, Masashi Akiyama¹

Affiliations

¹ Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
² Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan.
³ Department of Geriatric and Environmental Dermatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

PMID: 31907960
DOI: 10.1111/1346-8138.15210

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Alopecia / genetics
Alopecia / pathology*
Exome Sequencing
Female
Humans
Ichthyosis / genetics
Ichthyosis / pathology*
Metalloendopeptidases / genetics*
Phenotype
Photophobia / genetics
Photophobia / pathology*
Skin / pathology*

Substances

Metalloendopeptidases
MBTPS2 protein, human

Supplementary concepts

Ichthyosis follicularis atrichia photophobia syndrome

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