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
2015; Wiley; Volume: 167; Issue: 6 Linguagem: Inglês
10.1002/ajmg.a.36848
ISSN1552-4833
AutoresSaumya Shekhar Jamuar, Hatice Duzkale, Neslihan Düzkale, Chengsheng Zhang, Frances A. High, Leonard B. Kaban, Soma Bhattacharya, Barbara F. Crandall, Sibel Kantarci, Joan M. Stoler, Angela E. Lin,
Tópico(s)RNA regulation and disease
ResumoAmerican Journal of Medical Genetics Part AVolume 167, Issue 6 p. 1400-1405 Research Letter 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 Saumya S. Jamuar, Corresponding Author Saumya S. Jamuar Harvard Medical School Genetics Training Program, Boston, Massachussetts Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore Correspondence to: Saumya S. Jamuar, MBBS, Department of Paediatric Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899. E-mail: [email protected]Search for more papers by this authorHatice Duzkale, Hatice Duzkale Harvard Medical School Genetics Training Program, Boston, Massachussetts Department of Medical Genetics, Yeditepe University School of Medicine, Istanbul, TurkeySearch for more papers by this authorNeslihan Duzkale, Neslihan Duzkale Department of Medical Genetics, Osmangazi University School of Medicine, Eskisehir, TurkeySearch for more papers by this authorChengsheng Zhang, Chengsheng Zhang Harvard Medical School Genetics Training Program, Boston, MassachussettsSearch for more papers by this authorFrances A. High, Frances A. High Harvard Medical School Genetics Training Program, Boston, MassachussettsSearch for more papers by this authorLeonard Kaban, Leonard Kaban Department of Oral Maxillofacial Surgery, Massachusetts General Hospital, Boston, MassachussettsSearch for more papers by this authorSoma Bhattacharya, Soma Bhattacharya Department of Anesthesia, Massachusetts General Hospital, Boston, MassachussettsSearch for more papers by this authorBarbara Crandall, Barbara Crandall David Geffen School of Medicine at UCLA, Los Angeles, CaliforniaSearch for more papers by this authorSibel Kantarci, Sibel Kantarci David Geffen School of Medicine at UCLA, Los Angeles, CaliforniaSearch for more papers by this authorJoan M. Stoler, Joan M. Stoler Division of Genetics, Boston Children's Hospital, Boston, MassachussetsSearch for more papers by this authorAngela E. Lin, Angela E. Lin Genetics Unit, MassGeneral Hospital for Children, Boston, MassachussetsSearch for more papers by this author Saumya S. Jamuar, Corresponding Author Saumya S. Jamuar Harvard Medical School Genetics Training Program, Boston, Massachussetts Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore Correspondence to: Saumya S. Jamuar, MBBS, Department of Paediatric Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899. E-mail: [email protected]Search for more papers by this authorHatice Duzkale, Hatice Duzkale Harvard Medical School Genetics Training Program, Boston, Massachussetts Department of Medical Genetics, Yeditepe University School of Medicine, Istanbul, TurkeySearch for more papers by this authorNeslihan Duzkale, Neslihan Duzkale Department of Medical Genetics, Osmangazi University School of Medicine, Eskisehir, TurkeySearch for more papers by this authorChengsheng Zhang, Chengsheng Zhang Harvard Medical School Genetics Training Program, Boston, MassachussettsSearch for more papers by this authorFrances A. High, Frances A. High Harvard Medical School Genetics Training Program, Boston, MassachussettsSearch for more papers by this authorLeonard Kaban, Leonard Kaban Department of Oral Maxillofacial Surgery, Massachusetts General Hospital, Boston, MassachussettsSearch for more papers by this authorSoma Bhattacharya, Soma Bhattacharya Department of Anesthesia, Massachusetts General Hospital, Boston, MassachussettsSearch for more papers by this authorBarbara Crandall, Barbara Crandall David Geffen School of Medicine at UCLA, Los Angeles, CaliforniaSearch for more papers by this authorSibel Kantarci, Sibel Kantarci David Geffen School of Medicine at UCLA, Los Angeles, CaliforniaSearch for more papers by this authorJoan M. Stoler, Joan M. Stoler Division of Genetics, Boston Children's Hospital, Boston, MassachussetsSearch for more papers by this authorAngela E. Lin, Angela E. Lin Genetics Unit, MassGeneral Hospital for Children, Boston, MassachussetsSearch for more papers by this author First published: 02 April 2015 https://doi.org/10.1002/ajmg.a.36848Citations: 6 Conflict of interest: none. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. 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