158 related articles for article (PubMed ID: 38627542)
1. A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y; Bai Y; Yan W; Li M; Wu F; Xu M; Wu N; Ge H; Liu Y
Eur J Hum Genet; 2024 Jun; 32(6):647-655. PubMed ID: 38627542
[TBL] [Abstract][Full Text] [Related]
2. Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.
Khan MI; Choi S; Zahid M; Ahmad H; Ali R; Jelani M; Kang C
Genes Genomics; 2018 Jul; 40(7):789-795. PubMed ID: 29934816
[TBL] [Abstract][Full Text] [Related]
3. Acrokeratoelastoidosis: is there an association between asthma and sporadic cases in children?
McNally MA; Ibraheim MK; Tschen J; Koshelev MV
Dermatol Online J; 2020 Dec; 26(12):. PubMed ID: 33423427
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.
Guo BR; Zhang X; Chen G; Zhang JG; Sun LD; Du WD; Zhang Q; Cui Y; Zhu J; Tang XF; Xiao R; Liu Y; Li M; Tang HY; Yang X; Cheng H; Li M; Gao M; Li P; Wang JB; Xu FP; Zuo XB; Zheng XD; Zhang XG; Yang L; Liu JJ; Wang J; Yang S; Zhang XJ
J Med Genet; 2012 Sep; 49(9):563-8. PubMed ID: 22972947
[TBL] [Abstract][Full Text] [Related]
5. A linkage study of acrokeratoelastoidosis. Possible mapping to chromosome 2.
Greiner J; Krüger J; Palden L; Jung EG; Vogel F
Hum Genet; 1983; 63(3):222-7. PubMed ID: 6221990
[TBL] [Abstract][Full Text] [Related]
6. Acrokeratoelastoidosis: a spectrum of diseases.
de Boer EM; van Dijk E
Dermatologica; 1985; 171(1):8-11. PubMed ID: 3161761
[TBL] [Abstract][Full Text] [Related]
7. Unilateral acrokeratoelastoidosis--second reported case.
Klekowski N; Shwayder T
Pediatr Dermatol; 2011; 28(1):20-2. PubMed ID: 21208271
[TBL] [Abstract][Full Text] [Related]
8. [Molecular genetic study of a family affected with punctate palmoplantar keratoderma].
Jia Y; Wang S; Zhu Y; Luo D
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun; 34(3):369-372. PubMed ID: 28604957
[TBL] [Abstract][Full Text] [Related]
9. Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
Lee JY; In SI; Kim HJ; Jeong SY; Choung YH; Kim YC
J Korean Med Sci; 2010 Oct; 25(10):1539-42. PubMed ID: 20890442
[TBL] [Abstract][Full Text] [Related]
10. Palmoplantar keratoderma of punctate type: acrokeratoelastoidosis Costa.
Johansson EA; Kariniemi AL; Niemi KM
Acta Derm Venereol; 1980; 60(2):149-53. PubMed ID: 6155022
[TBL] [Abstract][Full Text] [Related]
11. Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.
Wang H; Cao X; Lin Z; Lee M; Jia X; Ren Y; Dai L; Guan L; Zhang J; Lin X; Zhang J; Chen Q; Feng C; Zhou EY; Yin J; Xu G; Yang Y
Hum Mol Genet; 2015 Jan; 24(1):243-50. PubMed ID: 25168385
[TBL] [Abstract][Full Text] [Related]
12. Exome sequencing identifies a TCF4 mutation in a Chinese pedigree with symmetrical acral keratoderma.
Chen P; Sun S; Zeng K; Li C; Wen J; Liang J; Tian X; Jiang Y; Zhang J; Zhang S; Han K; Han C; Zhang X
J Eur Acad Dermatol Venereol; 2018 Jul; 32(7):1204-1208. PubMed ID: 28921696
[TBL] [Abstract][Full Text] [Related]
13. A new variant of punctate acrokeratoderma associated with a pigmentary disorder.
Satoh T; Yokozeki H; Katayama I; Nishioka K
Br J Dermatol; 1993 Jun; 128(6):693-5. PubMed ID: 8338755
[TBL] [Abstract][Full Text] [Related]
14. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma.
Rickman L; Simrak D; Stevens HP; Hunt DM; King IA; Bryant SP; Eady RA; Leigh IM; Arnemann J; Magee AI; Kelsell DP; Buxton RS
Hum Mol Genet; 1999 Jun; 8(6):971-6. PubMed ID: 10332028
[TBL] [Abstract][Full Text] [Related]
15. Novel mutation in the DSG1 gene causes autosomal-dominant striate palmoplantar keratoderma in a large Syrian family.
Abi Zamer B; Mahfood M; Saleh B; Al Mutery AF; Tlili A
Ann Hum Genet; 2019 Nov; 83(6):472-476. PubMed ID: 31192455
[TBL] [Abstract][Full Text] [Related]
16. Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B.
Mohamad J; Samuelov L; Malki L; Peled A; Pavlovsky M; Malovitski K; Taiber S; Adir N; Rabinowitz T; Shomron N; Milner JD; Lestringant G; Sarig O; Sprecher E
Clin Exp Dermatol; 2021 Jan; 46(1):103-108. PubMed ID: 32683719
[TBL] [Abstract][Full Text] [Related]
17. Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene.
Barber AG; Wajid M; Columbo M; Lubetkin J; Christiano AM
J Dermatol Sci; 2007 Mar; 45(3):161-6. PubMed ID: 17194569
[TBL] [Abstract][Full Text] [Related]
18. Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma.
Banerjee S; Ren Y; Wei T; Zhou Z; Yu P; Guan F; Wei X; Ye S; Yan S; Zheng M; Raff ML; Qi M
Exp Dermatol; 2015 Feb; 24(2):152-5. PubMed ID: 25429721
[TBL] [Abstract][Full Text] [Related]
19. Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations.
Hasegawa A; Hayashi R; Shimomura Y; Hirashima M; Abe R
J Dermatol; 2021 Dec; 48(12):1926-1930. PubMed ID: 34535911
[TBL] [Abstract][Full Text] [Related]
20. Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.
Dinani N; Ali M; Liu L; McGrath J; Mellerio J
Clin Exp Dermatol; 2017 Apr; 42(3):316-319. PubMed ID: 28239884
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
