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- Homozygous missense mutation in the<i>LIPH</i>gene causing autosomal recessive hypotrichosis simplex in a Chinese patient
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
- Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
- Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
- A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
- A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- Identification of novel mutation in the<i>HR</i>gene responsible for atrichia with papular lesions in a Pakistani family
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
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