Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two familiesEpidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathyMutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma.Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma.Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma.Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma.The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report.A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy.Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.Hereditary epidermolytic palmoplantar keratoderma (Vörner type). Report of a familial case and review of the literature.Epidermolytic palmoplantar keratoderma of Vörner: is it the most frequent type of hereditary palmoplantar keratoderma?The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.Autosomal recessive epidermolytic palmoplantar keratoderma.Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-).Hereditary epidermolytic palmoplantar keratoderma with knuckle pad-like lesions over the finger joints.Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21.Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography.De novo mutation of keratin 9 gene in two Taiwanese patients with epidermolytic palmoplantar keratoderma.A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma.A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma.A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma.Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma.Diffuse non-epidermolytic palmoplantar keratoderma.Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred.Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9.A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK).Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred.Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.Epidermolytic palmoplantar keratoderma with constriction bands on bilateral fifth toes.A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma.Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma.Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma.Missense mutation of keratin 9 (c.487C>T (p.R163W) in southern Chinese patients with epidermolytic palmoplantar keratoderma.Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.[Mutation analysis of a Uighur family with epidermolytic palmoplantar keratoderma].Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma.
P921
Q24321309-7F97BF04-2FEA-4D2B-AAC2-57A505FCC82DQ28282549-98A60C65-C50C-4A2A-8856-3EACABA79352Q34154117-61AC0088-9A2D-48DE-BF2F-DC7A7C809853Q34171153-9FD5BFF0-EF97-410E-B6B8-AB849EC4ABFDQ34283628-801800FA-C333-49BE-961E-35CA2ADDFF38Q34291582-8894EF09-EF0E-4899-AD91-F92865E97EB8Q34430878-5DF95846-239B-47D5-BFE6-AF5E13D47A49Q34483841-8462BB9A-4715-48BA-A68A-DC882D3A6984Q34788401-0E9AE664-A908-40C6-B5B1-92D67066D584Q36038502-5C9CCCE8-9FCD-43CB-BDF9-9E0668F2F14CQ37238767-0D5BA8B7-7A23-41EF-A875-289199A05B29Q38730248-052DA094-72D8-41F3-8C72-1640B6C3900AQ39482998-11643F53-82D4-49AD-B87E-3A479B454A3CQ39487755-3A2F206B-1B8A-4820-BFD6-152F4BFD3E5DQ40017098-A53022E3-EABB-4F89-8DF8-19E8B2B9B712Q41675894-CFBCAC34-829E-4E28-BCC6-0509A25B502CQ42720782-63B51FAB-5456-407E-86C3-0C8585266B7DQ43840477-132DB8BD-8A23-4A22-828C-915FEDE06527Q44009875-2CE594A7-769A-415F-8EA6-65480F84461AQ44033187-58A462B1-1B23-43D0-B723-79D87BD10AB0Q44601284-649FDFB9-FF43-4752-9A0E-1A0582158F4BQ44852561-9E3E0FCB-E015-417B-ABC7-038D46117DEAQ44871887-A11008D1-F31D-43F9-99B7-54C9044F643DQ45191208-6057F4AD-F590-47AD-8439-E580B9520BBAQ45874457-34592E59-DF77-41FA-81CC-B499A5156A81Q45926267-46D3AC85-9231-4939-BB59-F199017E0027Q45957475-0CE685AB-B7AF-4DFE-AD7C-256DF4F69B0BQ46757877-40FA3DC7-2073-4C18-AFA3-52ED2D4E8443Q46797129-D8DD828C-B4E8-41CB-837F-42DE4FFAF3BBQ46857163-6AF8F931-1BB5-4934-A355-238F66860F41Q47298003-5CED680A-B7E2-49F2-8FBF-2F11544E56FEQ47773519-D1A7E57F-A174-467D-90CA-AA9176C73F3CQ48084805-2FDFB9F9-E701-43B6-A673-C913B81949EBQ48131317-46896FEA-E604-413E-BD83-F65A1D679CA3Q48168837-C4D7B75F-E49B-4F00-B3E6-556D3BD9DCAEQ51407682-C3836041-26A4-466F-AFD5-1EDA30980218Q51816439-131D46AF-602B-4C2F-A58E-2CC8CAC90A86Q53638972-9C2B2979-25DF-4C51-AC70-8EF634FFCE58Q54452186-41E73682-B66F-40C9-85FE-3ED92E52683AQ54533126-ECDF8BD5-66A3-40B3-9752-C31C70D366F0
P921
description
human disease
@en
name
Cheratodermia palmo-plantare epidermolitica
@it
Diffuse epidermolytic palmoplantar keratoderma
@en
Epidermolytische palmoplantare Keratose
@de
kératodermie palmoplantaire épidermolytique
@fr
type
label
Cheratodermia palmo-plantare epidermolitica
@it
Diffuse epidermolytic palmoplantar keratoderma
@en
Epidermolytische palmoplantare Keratose
@de
kératodermie palmoplantaire épidermolytique
@fr
altLabel
Kératodermie palmoplantaire épidermolytique de Voerner
@fr
Vörner's epidermolytic palmoplantar keratoderma
@en
epidermolytic palmoplantar keratoderma
@en
kératodermie épidermolytique de Vörner
@fr
prefLabel
Cheratodermia palmo-plantare epidermolitica
@it
Diffuse epidermolytic palmoplantar keratoderma
@en
Epidermolytische palmoplantare Keratose
@de
kératodermie palmoplantaire épidermolytique
@fr
P672
P486
P2892
P3841
HP:0007559
P486
P492
P672
C16.320.850.475.440.500
C17.800.428.435.440.500
C17.800.827.475.440.500
P699
DOID:0080223