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

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Bibliographische Detailangaben
Veröffentlicht in:	American Journal of Medical Genetics Part A 2011, Vol.155A (11), p.2746-2749
Hauptverfasser:	Prontera, Paolo, Garelli, Emanuela, Isidori, Ilenia, Mencarelli, Amedea, Carando, Adriana, Silengo, Margherita Cirillo, Donti, Emilio
Format:	Report
Sprache:	eng
Schlagworte:	acro-dermato-ungual-lacrimal-tooth syndrome ADULT cleft palate ectrodactyly-ectodermal dysplasia-cleft lip/palate EEC ELA syndrome limb-mammary syndrome LMS phenotypic variability TP63
Online-Zugang:	Volltext
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