Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
作者信息
Jamuar Saumya S, Duzkale Hatice, Duzkale Neslihan, Zhang Chengsheng, High Frances A, Kaban Leonard, Bhattacharya Soma, Crandall Barbara, Kantarci Sibel, Stoler Joan M, Lin Angela E
机构信息
Harvard Medical School Genetics Training Program, Boston, Massachussetts.
Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.
出版信息
Am J Med Genet A. 2015 Jun;167(6):1400-5. doi: 10.1002/ajmg.a.36848. Epub 2015 Apr 2.
PMID:25846266
Abstract
摘要
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