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Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene.
Ann Acad Med Stetin. 2013; 59(1):11-4.AA

Abstract

Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) results from a simultaneous developmental abnor-caused by mutations of the tp63 gene. Five mutations: 204, 227, 279, 280, and 304 account for most cases of this syndrome. A case with R304W mutation, characterized by the presence of all major (ectrodactyly, ectodermal dysplasia, cleft lip and palate) and two minor (lacrimal duct obstruction, developmental delay) clinical symptoms of the syndrome is presented. This severe case improves the existing knowledge concerning the genotype-phenotype correlations in EEC syndrome.

Authors

Gawrych E
No affiliation info available
Bińczak-Kuleta A
No affiliation info available
Janiszewska-Olszowska J
No affiliation info available
Ciechanowicz A
No affiliation info available

MeSH

Cleft LipCleft PalateEctodermal DysplasiaFemaleHumansInfant, NewbornMutationTranscription FactorsTumor Suppressor Proteins

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24734328

Citation

Gawrych, Elzbieta, et al. "Ectrodactyly-ectodermal Dysplasia-cleft Syndrome (EEC Syndrome) With a Developmental Delay Caused By R304W Mutation in the Tp63 Gene." Annales Academiae Medicae Stetinensis, vol. 59, no. 1, 2013, pp. 11-4.
Gawrych E, Bińczak-Kuleta A, Janiszewska-Olszowska J, et al. Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene. Ann Acad Med Stetin. 2013;59(1):11-4.
Gawrych, E., Bińczak-Kuleta, A., Janiszewska-Olszowska, J., & Ciechanowicz, A. (2013). Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene. Annales Academiae Medicae Stetinensis, 59(1), 11-4.
Gawrych E, et al. Ectrodactyly-ectodermal Dysplasia-cleft Syndrome (EEC Syndrome) With a Developmental Delay Caused By R304W Mutation in the Tp63 Gene. Ann Acad Med Stetin. 2013;59(1):11-4. PubMed PMID: 24734328.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene. AU - Gawrych,Elzbieta, AU - Bińczak-Kuleta,Agnieszka, AU - Janiszewska-Olszowska,Joanna, AU - Ciechanowicz,Andrzej, PY - 2014/4/17/entrez PY - 2013/1/1/pubmed PY - 2014/5/9/medline SP - 11 EP - 4 JF - Annales Academiae Medicae Stetinensis JO - Ann Acad Med Stetin VL - 59 IS - 1 N2 - Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) results from a simultaneous developmental abnor-caused by mutations of the tp63 gene. Five mutations: 204, 227, 279, 280, and 304 account for most cases of this syndrome. A case with R304W mutation, characterized by the presence of all major (ectrodactyly, ectodermal dysplasia, cleft lip and palate) and two minor (lacrimal duct obstruction, developmental delay) clinical symptoms of the syndrome is presented. This severe case improves the existing knowledge concerning the genotype-phenotype correlations in EEC syndrome. SN - 1427-440X UR - https://www.unboundmedicine.com/medline/citation/24734328/Ectrodactyly_ectodermal_dysplasia_cleft_syndrome__EEC_syndrome__with_a_developmental_delay_caused_by_R304W_mutation_in_the_tp63_gene_ L2 - http://www.diseaseinfosearch.org/result/2437 DB - PRIME DP - Unbound Medicine ER -