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Research 30 of 868
- 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 in the type II hair keratin hHb3 is associated with monilethrix
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
- A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- Atrichia with papular lesions resulting from a novel homozygous missense mutation in the 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
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- 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 homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
- Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
- Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat
- A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
- A missense mutation in Lama3 causes androgen alopecia
- Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D
- A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
- Homozygous missense mutation in the<i>LIPH</i>gene causing autosomal recessive hypotrichosis simplex in a Chinese patient
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
- A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
- Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
- Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
- Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
- Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma