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

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Bibliographic Details
Published in:Journal of dermatology 2020-11, Vol.47 (11), p.e393-e394
Main Authors: Tahara, Umi, Ono, Noriko, Aoki, Satomi, Kawai, Tomoko, Nakabayashi, Kazuhiko, Hata, Kenichiro, Amagai, Masayuki, Kubo, Akiharu
Format: Article
Language:English
Subjects:
Chromosome 3
Chromosomes
Chromosomes, Human, Pair 3
Genes, Recessive
Genetic disorders
Hair
Hair Diseases - genetics
Humans
Hypotrichosis - diagnosis
Hypotrichosis - genetics
Mutation
Pedigree
Skin diseases
Uniparental disomy
Uniparental Disomy - genetics
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ISSN:0385-2407
1346-8138
DOI:10.1111/1346-8138.15550