Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder with mandibular hypoplasia and question-mark ears (QMEs) as major features. QMEs, consisting of a specific defect at the lobe-helix junction, can also occur as an isolated anomaly. Studies in animal models have indicated the essential r...

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Main Authors: Gordon, Christopher T., Petit, Florence, Kroisel, Peter M., Jakobsen, Linda, Zechi-Ceide, Roseli Maria, Oufadem, Myriam, Bole-Feysot, Christine, Pruvost, Solenn, Masson, Cécile, Tores, Frédéric, Hieu, Thierry, Nitschké, Patrick, Lindholm, Pernille, Pellerin, Philippe, Guion-Almeida, Maria Leine, Kokitsu-Nakata, Nancy Mizue, Vendramini-Pittoli, Siulan, Munnich, Arnold, Lyonnet, Stanislas, Holder-Espinasse, Muriel, Amiel, Jeanne
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3853412/
https://ncbi.nlm.nih.gov/pubmed/24268655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.10.023
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