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Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63ZENTENO, Juan Carlos; BERDON-ZAPATA, Valeria; KOFMAN-ALFARO, Susana et al.American journal of medical genetics. 2005, Vol 134A, Num 1, pp 74-76, issn 0148-7299, 3 p.Article

Syndrome FATCO―aplasie fibulaire, campomélie tibiale et oligosyndactylieVYSKOCIL, Vaclav; DORTOVA JIRI DORT, Eva; CHUDACEK, Zdenek et al.Revue du rhumatisme (Ed. française). 2011, Vol 78, Num 1, pp 96-97, issn 1169-8330, 2 p.Article

ISOLATED ECTRODACTYLY IN A NEWBORN WITH DOWN SYNDROMEKAVURT, S; CELIK, I. H; ADA, B. S et al.Genetic counseling. 2014, Vol 25, Num 2, pp 209-214, issn 1015-8146, 6 p.Article

Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-SyndromeKNAUDT, Bjorn; VOLZ, Thomas; KRUG, Markus et al.EJD. European journal of dermatology. 2012, Vol 22, Num 5, pp 605-613, issn 1167-1122, 9 p.Article

A Case of Ankyloblepharon, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Ectrodactyly: Are the p63 Syndromes Distinct After All?CHIU, Yvonne E; DROLET, Beth A; DUFFY, Kelly J et al.Pediatric dermatology. 2011, Vol 28, Num 1, pp 15-19, issn 0736-8046, 5 p.Article

Midface growth in patients with ectrodactyly-ectodermal dysplasia-clefting syndromeBIRGFELD, Craig B; GLICK, Patricia; SINGH, Davinder et al.Plastic and reconstructive surgery (1963). 2007, Vol 120, Num 1, pp 144-150, issn 0032-1052, 7 p.Article

Fibular aplasia with ectrodactyly : broadening the clinical spectrumGIERUSZCZAK-BIALEK, D; OLDAK, M; SKORKA, A et al.European journal of medical genetics. 2006, Vol 49, Num 1, pp 83-86, issn 1769-7212, 4 p.Article

Bifurcation of the femur with tibial agenesis and additional anomaliesVAN DE KAMP, J. M; VAN DER SMAGT, J. J; BOS, C. F. A et al.American journal of medical genetics. 2005, Vol 138A, Num 1, pp 45-50, issn 0148-7299, 6 p.Article

ECTRODACTYLY AND TETRALOGY OF FALLOT IN A FETUS WITH DEL(6)(q21q23)NOVIKOVA, I. V; LAZAREVICH, A. A; EGOROVA, T. M et al.Genetic counseling. 2014, Vol 25, Num 1, pp 19-27, issn 1015-8146, 9 p.Article

Limbal Stem Cell Deficiency and Ocular Phenotype in Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Caused by p63 MutationsDI IORIO, Enzo; KAYE, Stephen B; PONZIN, Diego et al.Ophthalmology (Rochester, MN). 2012, Vol 119, Num 1, pp 74-83, issn 0161-6420, 10 p.Article

A Newborn With Overlapping Features of AEC and EEC SyndromesCELIK, Tolga Hasan; BUYUKCAM, Ayse; SIMSEK-KIPER, Pelin Ozlem et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 12, pp 3100-3103, issn 1552-4825, 4 p.Article

Wolf—Hirschhorn Syndrome and Ectrodactyly: New Findings and a Review of the LiteratureSHANSKE, Alan L; YACHELEVICH, Naomi; ALA-KOKKO, Leena et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 1, pp 203-208, issn 1552-4825, 6 p.Article

Clinical Variability in Acro-Cardio-Facial-SyndromeKARIMINEJAD, Ariana; BOZORGMEHR, Bita; MOHAMMAD ALL SEDIGHI GILANI et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 15, pp 1977-1979, issn 1552-4825, 3 p.Article

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 geneRINNE, Tuula; SPADONI, Emanuela; BRUNNER, Han G et al.European journal of human genetics. 2006, Vol 14, Num 8, pp 904-910, issn 1018-4813, 7 p.Article

Differential teratogenesis of all-trans-retinoic acid administered on gestational day 9.5 to SWV and C57BL/6N mice : Emphasis on limb dysmorphologyCOLLINS, M. D; ECKHOFF, C; WEISS, R et al.Birth defects research. Clinical and molecular teratology. 2006, Vol 76, Num 2, pp 96-106, issn 1542-0752, 11 p.Article

Dlx homeobox gene control of mammalian limb and craniofacial developmentKRAUS, Petra; LUFKIN, Thomas.American journal of medical genetics. Part A. 2006, Vol 140, Num 13, pp 1366-1374, issn 1552-4825, 9 p.Article

Pattern of p63 mutations and their phenotypes- : UpdateRINNE, Tuula; HAMEL, Ben; VAN BOKHOVEN, Hans et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 13, pp 1396-1406, issn 1552-4825, 11 p.Article

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)KJAER, K. W; HANSEN, L; SCHWABE, G. C et al.Journal of medical genetics. 2005, Vol 42, Num 4, pp 292-298, issn 0022-2593, 7 p.Article

Familial ectrodactyly―ectodermal dysplasia―clefting syndromeGÜN, Ismet; KIZILASLAN, Cem; ARAL ATALAY, Mehmet et al.International journal of gynaecology and obstetrics. 2012, Vol 119, Num 1, pp 86-87, issn 0020-7292, 2 p.Article

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 SyndromePRONTERA, Paolo; GARELLI, Emanuela; ISIDORI, Llenia et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 11, pp 2746-2749, issn 1552-4825, 4 p.Article

Holoprosencephaly and Ectrodactyly: Report of Three New Patients and Review of the LiteratureKEATON, Amelia A; SOLOMON, Benjamin D; VAN ESSEN, Anthonie J et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2010, Vol 154, Num 1, pp 170-175, issn 1552-4868, 6 p.Article

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q 14.1-q 14.2DAVID, Dezsö; MARQUES, Barbara; FERREIRA, Cristina et al.European journal of human genetics. 2009, Vol 17, Num 8, pp 1024-1033, issn 1018-4813, 10 p.Article

Prenatally Diagnosed Ectrodactyly at 16 Weeks' Gestation by 2-and 3-Dimensional Ultrasonography : A Case ReportBON SANG KOO; SU JIN BAEK; MI RYUNG KIM et al.Fetal diagnosis and therapy. 2008, Vol 24, Num 3, pp 161-164, issn 1015-3837, 4 p.Article

EEC syndrome sans clefting : Variable clinical presentations in a familyTHAKKAR, Sejal; MARFATIA, Yogesh.Indian Journal of Dermatology Venereology and Leprology. 2007, Vol 73, Num 1, pp 46-48, issn 0378-6323, 3 p.Article

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGHTZSCHACH, Andreas; MENZEL, Corinna; ERDOGAN, Fikret et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 4, pp 333-337, issn 1552-4825, 5 p.Article

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