Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas.
about
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndromeA gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23Genetic disorders of palm skin and nailIdentification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelopeEvidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patientsHaim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin CLocalisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutationIdentification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patientsMutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndromePalmoplantar keratoderma is associated with esophagus squamous cell cancer in Van region of Turkey: a case control study.Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanismsHeterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndromeTricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions.Papillon-Lefevre syndrome: Reporting consanguinity as a risk factorInfluences of systemic diseases on periodontitis in children and adolescents.Keratin expression in human tissues and neoplasms.Genetics of gastroesophageal cancer: paradigms, paradoxes, and prognostic utility.Systemic disease and periodontitis: manifestations of neutrophil dysfunction.A "crackleware" oesophagus.Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.Genetic deletion of amphiregulin restores the normal skin phenotype in a mouse model of the human skin disease tylosisPeriodontal manifestations in a patient with haim-munk syndrome.Sybert'S keratoderma in three siblings.Buschke-Fischer-Brauer Keratoderma: Linear Variety Associated with Hodgkin's Lymphoma.Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography.Lung carcinoma with congenital plantar keratoderma as a variant of Clarke-Howel-Evans syndrome.Disorders of Keratinization
P2860
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P2860
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Linkage of an American pedigre ...... ification of the keratodermas.
@en
type
label
Linkage of an American pedigre ...... ification of the keratodermas.
@en
prefLabel
Linkage of an American pedigre ...... ification of the keratodermas.
@en
P2093
P1433
P1476
Linkage of an American pedigre ...... ification of the keratodermas.
@en
P2093
Kelsell DP
Stevens HP
Weissenbach J
P304
P356
10.1001/ARCHDERM.132.6.640
P577
1996-06-01T00:00:00Z