Case of autosomal recessive woolly hair/hypotrichosis with a homozygous c.736T>A mutation of LIPH caused by maternal uniparental disomy of chromosome 3

• DOI: 10.1111/1346-8138.15550
• Publication Date: 2020-08-12T05:33:22Z
• Authors: Umi Tahara; Noriko Ono; Satomi Aoki; Tomoko Kawai; Kazuhiko Nakabayashi; Kenichiro Hata; Masayuki Amagai; Akiharu Kubo
• Keywords: 0301 basic medicine; 03 medical and health sciences; Mutation; Humans; Genes, Recessive; Chromosomes, Human, Pair 3; Uniparental Disomy; Hair Diseases; Hypotrichosis; Hair; Pedigree