Mutations in NOTCH1 cause Adams-Oliver Syndrome

Authors

Anna Barbara Stittrich, Institute for Systems Biology, Seattle, WA
Anna M. Lehman, The University of British Columbia, Vancouver, Canada
Dale L. Bodian, Inova Translational Medicine Institute, Falls Church
Justin Ashworth, Institute for Systems Biology, Seattle, WA
Eyby Leon-Janampa, George Washington UniversityFollow
& 14 additional authors...

Document Type

Journal Article

Publication Date

2014

Journal

American Journal of Human Genetics

Volume

Volume 95, Issue 3

Inclusive Pages

275-284

Keywords

Abnormalities, Multiple--genetics; Ectodermal Dysplasia--genetics; Ectodermal Dysplasia--pathology; Limb Deformities, Congenital--genetics; Limb Deformities, Congenital--pathology; Mutation--genetics; Receptor, Notch1--genetics; Scalp Dermatoses--congenital

Comments

PMCID: PMC4157158 [Available on 2015/3/4]

APA Citation

Stittrich, A.B., Lehman, A., Bodian, D.L., Ashworth, J., Zong, Z. et al. (2014). Mutations in NOTCH1 cause Adams-Oliver syndrome. American Journal of Human Genetics, 95(3), 275-284.

Peer Reviewed

1