More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

CHARGE (coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear abnormalities) and 22q11.2 deletion syndromes are variable, congenital malformation syndromes that show considerable phenotypic overlap. We further explored this clinical overlap a...

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主要な著者: Nicole Corsten‐Janssen, Sulagna C. Saitta, Lies H. Hoefsloot, Donna M. McDonald‐McGinn, D.A. Driscoll, Ronny Derks, Kimberley Dickinson, Wilhelmina S. Kerstjens‐Frederikse, Beverly S. Emanuel, Elaine H. Zackai, Conny M.A. van Ravenswaaij‐Arts
フォーマット: Artigo
言語:英語
出版事項: 2013
オンライン・アクセス:https://doi.org/10.1159/000351127
https://www.karger.com/Article/Pdf/351127
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