Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

BACKGROUND: The acronym CHARGE refers to a non‐random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and ear anomalies. This set of multiple congenital anomalies is frequent, despite rare patients with no...

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Κύριοι συγγραφείς: Sanlaville, D, Etchevers, H C, Gonzales, M, Martinovic, J, Clément‐Ziza, M, Delezoide, A‐L, Aubry, M‐C, Pelet, A, Chemouny, S, Cruaud, C, Audollent, S, Esculpavit, C, Goudefroye, G, Ozilou, C, Fredouille, C, Joye, N, Morichon‐Delvallez, N, Dumez, Y, Weissenbach, J, Munnich, A, Amiel, J, Encha‐Razavi, F, Lyonnet, S, Vekemans, M, Attié‐Bitach, T
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BMJ Group 2006
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Original Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563257/
https://ncbi.nlm.nih.gov/pubmed/16169932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.036160
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