Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

Southgate, Laura

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. [electronic resource] - Circulation. Cardiovascular genetics Aug 2015 - 572-581 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1942-3268

10.1161/CIRCGENETICS.115.001086 doi


Adolescent
Adult
Base Sequence
Child
Ectodermal Dysplasia--genetics
Exome--genetics
Family Health
Female
Gene Expression
Genetic Predisposition to Disease--genetics
Haploinsufficiency
Heart Defects, Congenital--genetics
Humans
Limb Deformities, Congenital--genetics
Male
Middle Aged
Models, Molecular
Pedigree
Protein Structure, Tertiary
Receptor, Notch1--chemistry
Reverse Transcriptase Polymerase Chain Reaction
Scalp Dermatoses--congenital
Sequence Analysis, DNA--methods
Signal Transduction--genetics
Young Adult