Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
Author:
Affiliation:
1. Department of Dermatology Shinshu University School of Medicine Matsumoto Japan
2. Division of Dermatology Niigata University Graduate School of Medical and Dental Sciences Niigata Japan
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16761
Reference5 articles.
1. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH
2. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
3. Update of recent findings in genetic hair disorders
4. PrevalentLIPHfounder mutations lead to loss of P2Y5 activation ability of PA-PLA1α in autosomal recessive hypotrichosis
5. Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT)
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