A Novel Point Mutation in the Keratin 17 Gene in a Japanese Case of Pachyonychia Congenita Type 2
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چکیده
منابع مشابه
Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2.
Sec. 107. Limitations on exclusive rights: Fair use Notwithstanding the provisions of sections 106 and 106A, the fair use of a copyrighted work, including such use by reproduction in copies or phonorecords or by any other means specified by that section, for purposes such as criticism, comment, news reporting, teaching (including multiple copies for classroom use), scholarship, or research, is ...
متن کاملPachyonychia congenita type II: report of a case
Pachyonychia congenital (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. General clinical presentation includes thickening of finger and toenails, painful plantar keratoderma, hyperhidrosis, oral leukokeratosis, follicular keratosis, palmar keratoderma, cutaneous cysts, hoarseness, twisted hair and prenatal or natal teeth. Clinically, PC is d...
متن کاملKeratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity.
Pachyonychia congenita type 2 (PC-2) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, focal keratoderma, multiple pilosebaceous cysts, and other features of ectodermal dysplasia. It has been demonstrated that PC-2 is caused by mutations in the keratin 17 and keratin 6b genes. In this report, we describe a missense mutation in the keratin 17 gene, M88T, in a Korean...
متن کاملHomozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.
Sec. 107. Limitations on exclusive rights: Fair use Notwithstanding the provisions of sections 106 and 106A, the fair use of a copyrighted work, including such use by reproduction in copies or phonorecords or by any other means specified by that section, for purposes such as criticism, comment, news reporting, teaching (including multiple copies for classroom use), scholarship, or research, is ...
متن کاملKeratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
Pachyonychia congenita type 2 (PC-2; Jackson-Lawler syndrome) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, mild focal keratoderma, multiple pilosebaceous cysts and other features of ectodermal dysplasia. Keratin 17 (K17) is a differentiation-specific keratin expressed in the nail bed, hair follicle, sebaceous gland and other epidermal appendages. Previously, w...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2002
ISSN: 0022-202X
DOI: 10.1046/j.0022-202x.2001.01701.x