Case of autosomal recessive woolly hair/hypotrichosis with a homozygous c.736T>A mutation of LIPH caused by maternal uniparental disomy of chromosome 3.
Umi TaharaNoriko OnoSatomi AokiTomoko KawaiKazuhiko NakabayashiKenichiro HataMasayuki AmagaiAkiharu KuboPublished in: The Journal of dermatology (2020)