Case of harlequin ichthyosis in preterm infant with a compound heterozygous ABCA12 missense mutation

J Dermatol. 2022 Apr;49(4):137-139. doi: 10.1111/1346-8138.16277. Epub 2021 Dec 13.

Authors

Moeka Miyazaki¹, Natsuki Ohkawa¹, Kazuki Miyabayashi¹, Hiromichi Shoji², Takuya Takeichi³, Masato Kantake¹, Masashi Akiyama³, Toshiaki Shimizu²

Affiliations

¹ Neonatal Intensive Care Unit, Juntendo University Shizuoka Hospital, Izunokuni, Japan.
² Department of Pediatrics and Adolescent Medicine, Juntendo University, Tokyo, Japan.
³ Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

PMID: 34904281
DOI: 10.1111/1346-8138.16277

No abstract available

Publication types

Letter

MeSH terms

ATP-Binding Cassette Transporters / genetics
Humans
Ichthyosis, Lamellar* / diagnosis
Ichthyosis, Lamellar* / genetics
Infant, Newborn
Infant, Premature
Mutation
Mutation, Missense

Substances

ABCA12 protein, human
ATP-Binding Cassette Transporters