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1 calized or generalized scaling, and frequent palmoplantar keratoderma.
2 ic cardiomyopathy and the cutaneous disorder palmoplantar keratoderma.
3 for understanding the pathogenesis of human palmoplantar keratoderma.
4 predominantly by nail dystrophy and painful palmoplantar keratoderma.
5 eleda is a rare, autosomal recessive form of palmoplantar keratoderma.
6 ation family of British descent with striate palmoplantar keratoderma.
7 a S233L(K1) mutation linked to epidermolytic palmoplantar keratoderma.
8 dominantly inherited skin disorder, striate palmoplantar keratoderma.
9 ence causes skin fragility, woolly hair, and palmoplantar keratoderma.
10 t lays the foundation for future research in palmoplantar keratoderma.
11 inical and genetic spectrum of patients with palmoplantar keratoderma.
12 the K9 gene are known to cause epidermolytic palmoplantar keratoderma, a rare dominant-negative skin
13 characterize three Cx43 mutations linked to palmoplantar keratoderma and congenital alopecia-1, eryt
14 autosomal recessive pattern, manifests with palmoplantar keratoderma and early, destructive periodon
15 ause a dominant Mendelian disorder featuring palmoplantar keratoderma and lamellar ichthyosis, a phen
16 olidify a link between Slurp2 deficiency and palmoplantar keratoderma and to be confident that the di
19 n that presents with nail dystrophy, painful palmoplantar keratoderma, and other clinical manifestati
21 inant skin disease, diffuse nonepidermolytic palmoplantar keratoderma, and was investigated as a poss
22 s for the triad of autosomal recessive ARVC, palmoplantar keratoderma, and woolly hair (Naxos disease
23 gene that results in skin fragility, diffuse palmoplantar keratoderma, and woolly hair with no sympto
25 roup of disorders, known collectively as the palmoplantar keratodermas, are unified by the phenotypic
26 s leading to keratinopathies such as striate palmoplantar keratoderma, as reported in this study.
27 of the autosomal dominant disorder, striate palmoplantar keratoderma, as well as an autosomal recess
28 eratitis-ichthyosis-deafness (KID) syndrome, palmoplantar keratoderma associated with hearing loss, a
29 paper, we report three patients with severe palmoplantar keratoderma associated with ichthyosis and
30 ed patients and affected family members with palmoplantar keratoderma between September 1, 2016, and
31 h mild skin fragility, woolly hair, and mild palmoplantar keratoderma but without a cardiac phenotype
37 (PC, OMIM:167200) or focal non-epidermolytic palmoplantar keratoderma (FNEPPK, OMIM:613000), which ea
38 ified KRT6C mutations in patients with focal palmoplantar keratoderma (FPPK), but debate concerning o
40 ermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the
41 prised nail dystrophy or nail loss, marginal palmoplantar keratoderma, hypodontia, enamel hypoplasia,
42 bilateral hearing loss, blinding keratitis, palmoplantar keratoderma, ichthyosiform erythroderma and
43 d, scaly skin at birth, experience worsening palmoplantar keratoderma in childhood, and develop hundr
44 msted syndrome with severe periorificial and palmoplantar keratoderma in multiple unrelated kindreds.
46 osis on the volar surface of the paws (i.e., palmoplantar keratoderma), increased keratinocyte prolif
49 Autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma is characterized by the adoptio
51 epidermolysis bullosa simplex, epidermolytic palmoplantar keratoderma, junctional epidermolysis bullo
52 characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia,
54 ensive mucocutaneous blisters, epidermolytic palmoplantar keratoderma, nail dystrophy, enamel dysplas
56 ophageal cancer (TOC), and non-epidermolytic palmoplantar keratoderma (NEPPK); increased iRhom2 cleav
57 8 years or older either newly diagnosed with palmoplantar keratoderma or being followed up for the di
58 in silico panel containing genes related to palmoplantar keratoderma, or by Sanger sequencing for sp
59 autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a
60 recapitulated the clinical features of human palmoplantar keratoderma: overcornification and thickeni
64 desmoglein (DSG) 1, cause the skin diseases palmoplantar keratoderma (PPK) and severe dermatitis, mu
67 delG in the V2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix C
68 in SLURP1 lead to a rare autosomal recessive palmoplantar keratoderma (PPK), Mal de Meleda (MdM), whi
74 l for pachyonychia congenita (PC)-associated palmoplantar keratoderma, prompted us to examine the rol
75 with AAGAB variants presented with punctate palmoplantar keratoderma, showing a clear genotype-pheno
76 a dominantly inherited skin disease, striate palmoplantar keratoderma (SPPK), mapping to chromosome 1
78 smoplakin mutation in a proband with striate palmoplantar keratoderma that also results in a null all
80 abrogated by a mutation that causes punctate palmoplantar keratoderma type 1 (PPKP1), a human skin di