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Paper Details

Mutations in NOTCH1 cause Adams-Oliver syndrome.
Am J Hum Genet
126
2014
1 G>T, 85 kb deletion, AOS, ARHGAP31, Adams-Oliver syndrome, Asp1989Asn, Cys1496Tyr, Cys429Arg, DOCK6, EOGT, NOTCH1, NOTCH1 5' region, NOTCH1 variants, Notch, Notch1, RBPJ, aplasia cutis of, bilaterally, c, c.4487G, c.4487G>A [p, c.5965G, c.5965G>A [p, c.743-, canonical splice-site variant, cardiac and multiple vascular defects, cell fate, human, limb and scalp defects, mouse, p.Asp1989Asn, p.Cys1496Tyr, p.Cys429Arg, terminal transverse limb defects, vasculopathy
Author NameAffiliation
Benjamin D SolomonInova Translational Medicine Institute, Inova Health System, Inova Children's Hospital
Gustavo GlusmanInstitute for Systems Biology
Jared C RoachInstitute for Systems Biology
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