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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Publishing Group 2013
Konular:
Genotype-Phenotype Correlations
Online Erişim: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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