22q11.2DS

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
Donna M McDonald-McGinn, Somayyeh Fahiminiya, Timothée Revil, Beata A Nowakowska, Joshua Suhl, Alice Bailey, Elisabeth Mlynarski, David R Lynch, Albert C Yan, Larissa T Bilaniuk, Kathleen E Sullivan, Stephen T Warren, Beverly S Emanuel, Joris R Vermeesch, Elaine H Zackai, Loydie A Jerome-Majewska

Journal of Medical Genetics Feb 2013, 50 (2) 80-90; DOI: 10.1136/jmedgenet-2012-101320

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22q11.2DS