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ADULT syndrome caused by a mutation previously associated with EEC syndrome.
Pediatr Dermatol. 2010 Nov-Dec; 27(6):643-5.PD

Abstract

Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT) syndrome is a rare autosomal dominant syndrome characterized by ectrodactyly or syndactyly, excessive freckling and dry skin, dysplastic nails, lacrimal duct atresia, primary hypodontia and early loss of permanent teeth. ADULT syndrome is one of five such syndromes that result from mutations in TP63, encoding the transcription factor p63. Until now, only four families and three individuals with ADULT syndrome have been reported in the English literature. We present a 14-year-old female patient with ADULT syndrome and discuss phenotype-genotype correlations in the p63 syndromes.

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Authors+Show Affiliations

Avitan-Hersh E
Department of Dermatology, Rambam Health Care Campus, Haifa, Israel. e_avitan@rambam.health.gov.il
Indelman M
No affiliation info available
Bergman R
No affiliation info available
Sprecher E
No affiliation info available

MeSH

AdolescentAnodontiaBreastCleft LipCleft PalateEctodermal DysplasiaFamily HealthFemaleHumansJewsLacrimal Duct ObstructionLimb Deformities, CongenitalNails, MalformedPigmentation DisordersPoint MutationTranscription FactorsTumor Suppressor Proteins

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21078104

Citation

Avitan-Hersh, Emily, et al. "ADULT Syndrome Caused By a Mutation Previously Associated With EEC Syndrome." Pediatric Dermatology, vol. 27, no. 6, 2010, pp. 643-5.
Avitan-Hersh E, Indelman M, Bergman R, et al. ADULT syndrome caused by a mutation previously associated with EEC syndrome. Pediatr Dermatol. 2010;27(6):643-5.
Avitan-Hersh, E., Indelman, M., Bergman, R., & Sprecher, E. (2010). ADULT syndrome caused by a mutation previously associated with EEC syndrome. Pediatric Dermatology, 27(6), 643-5. https://doi.org/10.1111/j.1525-1470.2010.01131.x
Avitan-Hersh E, et al. ADULT Syndrome Caused By a Mutation Previously Associated With EEC Syndrome. Pediatr Dermatol. 2010 Nov-Dec;27(6):643-5. PubMed PMID: 21078104.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - ADULT syndrome caused by a mutation previously associated with EEC syndrome. AU - Avitan-Hersh,Emily, AU - Indelman,Margarita, AU - Bergman,Reuven, AU - Sprecher,Eli, Y1 - 2010/11/16/ PY - 2010/11/17/entrez PY - 2010/11/17/pubmed PY - 2011/7/13/medline SP - 643 EP - 5 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 27 IS - 6 N2 - Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT) syndrome is a rare autosomal dominant syndrome characterized by ectrodactyly or syndactyly, excessive freckling and dry skin, dysplastic nails, lacrimal duct atresia, primary hypodontia and early loss of permanent teeth. ADULT syndrome is one of five such syndromes that result from mutations in TP63, encoding the transcription factor p63. Until now, only four families and three individuals with ADULT syndrome have been reported in the English literature. We present a 14-year-old female patient with ADULT syndrome and discuss phenotype-genotype correlations in the p63 syndromes. SN - 1525-1470 UR - https://wwww.unboundmedicine.com/medline/citation/21078104/ADULT_syndrome_caused_by_a_mutation_previously_associated_with_EEC_syndrome_ L2 - https://doi.org/10.1111/j.1525-1470.2010.01131.x DB - PRIME DP - Unbound Medicine ER -