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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Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Publishing Group 2013
Materias:
Genotype-Phenotype Correlations
Acceso en línea: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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