Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder, affecting an estimated 1 : 2000–4000 live births. Patients with 22q11.2DS have a broad spectrum of phenotypic abnormalities which generally includes congenital cardiac abnormalities, palatal anomalies, and i...

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書誌詳細
主要な著者: McDonald-McGinn, Donna M, Fahiminiya, Somayyeh, Revil, Timothée, Nowakowska, Beata A, Suhl, Joshua, Bailey, Alice, Mlynarski, Elisabeth, Lynch, David R, Yan, Albert C, Bilaniuk, Larissa T, Sullivan, Kathleen E, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R, Zackai, Elaine H, Jerome-Majewska, Loydie A
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 2013
主題:
Genotype-Phenotype Correlations
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3585484/
https://ncbi.nlm.nih.gov/pubmed/23231787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101320
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