Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. [electronic resource]
Producer: 20160520Description: 572-581 p. digitalISSN:- 1942-3268
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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