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- 5 alpha-reductase-2 gene mutations in the Dominican Republic.
- Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
- A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
- Identification of a recurrent nonsense mutation in <i>HR</i> gene responsible for atrichia with papular lesions in two Kashmiri families
- 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
- Alopecia Universalis Associated with a Mutation in the Human <i>hairless</i> Gene
- Keratin gene mutations in disorders of human skin and its appendages
- A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
- Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- Novel missense mutation in the EDA gene in a family affected by oligodontia
- Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
- Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (<i>Hr<sup>rh-R</sup></i>) in the Hairless Gene (<i>Hr</i>)
- Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
- Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
- A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice
- Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
- Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene