183 related articles for article (PubMed ID: 23906991)
1. Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27).
Schindler A; Guazzarotti L; Mameli C; Urbani E; Mozzanica F; Guerrini L; Zuccotti GV
Int J Pediatr Otorhinolaryngol; 2013 Sep; 77(9):1606-8. PubMed ID: 23906991
[TBL] [Abstract][Full Text] [Related]
2. Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene.
Gawrych E; Bińczak-Kuleta A; Janiszewska-Olszowska J; Ciechanowicz A
Ann Acad Med Stetin; 2013; 59(1):11-4. PubMed ID: 24734328
[TBL] [Abstract][Full Text] [Related]
3. Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.
Paranaíba LM; Martelli-Júnior H; de Miranda RT; Bufalino A; Abdo Filho RC; Coletta RD
Cleft Palate Craniofac J; 2010 Sep; 47(5):544-7. PubMed ID: 20180707
[TBL] [Abstract][Full Text] [Related]
4. Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.
Barbaro V; Nasti AA; Raffa P; Migliorati A; Nespeca P; Ferrari S; Palumbo E; Bertolin M; Breda C; Miceli F; Russo A; Caenazzo L; Ponzin D; Palù G; Parolin C; Di Iorio E
Stem Cells Transl Med; 2016 Aug; 5(8):1098-105. PubMed ID: 27151912
[TBL] [Abstract][Full Text] [Related]
5. [Heterozygous TP63 mutation in a Chinese patient with ectrodactyly-ectodermal dysplasia clefting syndrome without clefting].
Han D; Wu H; Zhang XX; Feng HL
Zhonghua Kou Qiang Yi Xue Za Zhi; 2010 Dec; 45(12):767-9. PubMed ID: 21211247
[TBL] [Abstract][Full Text] [Related]
6. A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.
Sorasio L; Biamino E; Garelli E; Ferrero GB; Silengo MC
Clin Exp Dermatol; 2009 Dec; 34(8):e726-8. PubMed ID: 19663851
[TBL] [Abstract][Full Text] [Related]
7. A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene.
Koubek M; Strakošová K; Timkovič J; Grečmalová D; Orlíková A; Burčková H; Wiedermannová H; Mašek P
Ophthalmic Genet; 2018 Apr; 39(2):251-254. PubMed ID: 29140732
[TBL] [Abstract][Full Text] [Related]
8. De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome.
Shotelersuk V; Janklat S; Siriwan P; Tongkobpetch S
Clin Exp Dermatol; 2005 May; 30(3):282-5. PubMed ID: 15807690
[TBL] [Abstract][Full Text] [Related]
9. Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.
Serra G; Antona V; Giuffré M; Li Pomi F; Lo Scalzo L; Piro E; Schierz IAM; Corsello G
Ital J Pediatr; 2021 Sep; 47(1):196. PubMed ID: 34583755
[TBL] [Abstract][Full Text] [Related]
10. Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.
Gonzalez F; Loidi L; Abalo-Lojo JM
Ophthalmic Genet; 2017; 38(3):277-280. PubMed ID: 27485918
[TBL] [Abstract][Full Text] [Related]
11. A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.
Brueggemann FB; Bartsch O
Clin Dysmorphol; 2016 Apr; 25(2):50-3. PubMed ID: 26882220
[TBL] [Abstract][Full Text] [Related]
12. Sweating ability of patients with p63-associated syndromes.
Ferstl P; Wohlfart S; Schneider H
Eur J Pediatr; 2018 Nov; 177(11):1727-1731. PubMed ID: 30088137
[TBL] [Abstract][Full Text] [Related]
13. Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
Prontera P; Garelli E; Isidori I; Mencarelli A; Carando A; Silengo MC; Donti E
Am J Med Genet A; 2011 Nov; 155A(11):2746-9. PubMed ID: 21990121
[TBL] [Abstract][Full Text] [Related]
14. EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report.
Okur M; Eroz R; Mundlos S; Senses DA; Ulgen E; Ismailler ZB; Ozcelik D
Genet Couns; 2012; 23(4):483-5. PubMed ID: 23431748
[TBL] [Abstract][Full Text] [Related]
15. Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
Clements SE; Techanukul T; Coman D; Mellerio JE; McGrath JA
Br J Dermatol; 2010 Jan; 162(1):201-7. PubMed ID: 19903181
[TBL] [Abstract][Full Text] [Related]
16. The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene.
Ergin H; Semerci CN; Karakuş YT; Scheffer H; Ergin S; Koltuksuz U; Meijer R; Satiroğlu-Tufan NL
Turk J Pediatr; 2010; 52(5):529-33. PubMed ID: 21434540
[TBL] [Abstract][Full Text] [Related]
17. A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma.
Balci S; Engiz O; Okten G; Sipahier M; Gursu G; Kandemir B
Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2009 Sep; 108(3):e91-5. PubMed ID: 19716498
[TBL] [Abstract][Full Text] [Related]
18. Limited ectrodactyly, ectodermal dysplasia and cleft lip-palate syndrome with a p63 mutation, associated with linear and whorled naevoid hypermelanosis.
Pratsou P; Defty CL; Ozoemena L; McGrath JA; Moss C; Gach JE
Clin Exp Dermatol; 2014 Mar; 39(2):266-8. PubMed ID: 24460914
[No Abstract] [Full Text] [Related]
19. Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.
Zheng J; Liu H; Zhan Y; Liu Y; Wong SW; Cai T; Feng H; Han D
Mol Genet Genomic Med; 2019 Jun; 7(6):e704. PubMed ID: 31050217
[TBL] [Abstract][Full Text] [Related]
20. An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology.
Prontera P; Escande F; Cocchi G; Donti E; Martini A; Sensi A
Genet Couns; 2008; 19(4):397-402. PubMed ID: 19239083
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
