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Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.
Gonzalez, Francisco; Loidi, Lourdes; Abalo-Lojo, Jose M.
Affiliation
  • Gonzalez F; a Department of Surgery and CIMUS , University of Santiago de Compostela , Santiago de Compostela , Spain.
  • Loidi L; b Service of Ophthalmology and IDIS , Complejo Hospitalario Universitario de Santiago de Compostela , Santiago de Compostela , Spain.
  • Abalo-Lojo JM; c Fundación Publica Galega de Medicina Xenomica, SERGAS , Santiago de Compostela , Spain.
Ophthalmic Genet ; 38(3): 277-280, 2017.
Article in En | MEDLINE | ID: mdl-27485918
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Ectodermal Dysplasia / Eye Abnormalities / Cleft Lip / Cleft Palate / Mutation, Missense / Tumor Suppressor Proteins / Eyelids Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Newborn Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2017 Document type: Article Affiliation country: Spain Country of publication: United kingdom
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Ectodermal Dysplasia / Eye Abnormalities / Cleft Lip / Cleft Palate / Mutation, Missense / Tumor Suppressor Proteins / Eyelids Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Newborn Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2017 Document type: Article Affiliation country: Spain Country of publication: United kingdom