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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| Veröffentlicht in: | American Journal of Medical Genetics Part A 2011, Vol.155A (11), p.2746-2749 |
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| Hauptverfasser: | , , , , , , |
| Format: | Report |
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| container_end_page | 2749 |
|---|---|
| container_issue | 11 |
| container_start_page | 2746 |
| container_title | American Journal of Medical Genetics Part A |
| container_volume | 155A |
| creator | Prontera, Paolo Garelli, Emanuela Isidori, Ilenia Mencarelli, Amedea Carando, Adriana Silengo, Margherita Cirillo Donti, Emilio |
| description | |
| doi_str_mv | 10.1002/ajmg.a.34270 |
| format | Report |
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| fulltext | fulltext |
| identifier | ISSN: 1552-4825 |
| ispartof | American Journal of Medical Genetics Part A, 2011, Vol.155A (11), p.2746-2749 |
| issn | 1552-4825 1552-4833 |
| language | eng |
| recordid | cdi_istex_primary_ark_67375_WNG_5WNKSFP8_D |
| source | Wiley-Blackwell Journals |
| subjects | 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 |
| title | 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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