174 related articles for article (PubMed ID: 23613309)
1. Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.
Giampietro PF; Baker MW; Basehore MJ; Jones JR; Seroogy CM
Am J Med Genet A; 2013 Jun; 161A(6):1432-5. PubMed ID: 23613309
[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. [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]
4. Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.
Serra V; Castori M; Paradisi M; Bui L; Melino G; Terrinoni A
Am J Med Genet A; 2011 Dec; 155A(12):3104-9. PubMed ID: 22069181
[TBL] [Abstract][Full Text] [Related]
5. A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
Soğukpınar M; Utine GE; Boduroğlu K; Şimşek-Kiper PÖ
Eur J Med Genet; 2024 Apr; 68():104911. PubMed ID: 38281558
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. A newborn with overlapping features of AEC and EEC syndromes.
Celik TH; Buyukcam A; Simsek-Kiper PO; Utine GE; Ersoy-Evans S; Korkmaz A; Yntema HG; Bodugroglu K; Yurdakok M
Am J Med Genet A; 2011 Dec; 155A(12):3100-3. PubMed ID: 22065614
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.
Enriquez A; Krivanek M; Flöttmann R; Peters H; Wilson M
Am J Med Genet A; 2016 Sep; 170(9):2372-6. PubMed ID: 27351625
[TBL] [Abstract][Full Text] [Related]
11. Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.
Hyder Z; Beale V; O'Connor R; Clayton-Smith J
Clin Dysmorphol; 2017 Apr; 26(2):78-82. PubMed ID: 28166087
[TBL] [Abstract][Full Text] [Related]
12. Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.
Childs AJ; Mabin DC; Turnpenny PD
Am J Med Genet A; 2020 Aug; 182(8):1939-1943. PubMed ID: 32476291
[TBL] [Abstract][Full Text] [Related]
13. Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant.
Helenius K; Ojala L; Kainulainen L; Peltonen S; Hietala M; Pohjola P; Parikka V
Eur J Med Genet; 2023 May; 66(5):104735. PubMed ID: 36863510
[TBL] [Abstract][Full Text] [Related]
14. Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene.
Wei J; Xue Y; Wu L; Ma J; Yi X; Zhang J; Lu B; Li C; Shi D; Shi S; Feng X; Cai T
PLoS One; 2012; 7(5):e35337. PubMed ID: 22574117
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes
Hizem S; Maamouri R; Zaouak A; Rejeb I; Karoui S; Sebai M; Jilani H; Elaribi Y; Fenniche S; Cheour M; Bilan F; Ben Jemaa L
Ophthalmic Genet; 2024 Feb; 45(1):84-94. PubMed ID: 37158316
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?
Sodero G; Colonna AT; Purcaro V; Onesimo R; Zampino G; Vento G
J Neonatal Perinatal Med; 2023; 16(2):349-353. PubMed ID: 37182847
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
