TY  - GEN
AU  - Southgate,Laura
AU  - Sukalo,Maja
AU  - Karountzos,Anastasios S V
AU  - Taylor,Edward J
AU  - Collinson,Claire S
AU  - Ruddy,Deborah
AU  - Snape,Katie M
AU  - Dallapiccola,Bruno
AU  - Tolmie,John L
AU  - Joss,Shelagh
AU  - Brancati,Francesco
AU  - Digilio,M Cristina
AU  - Graul-Neumann,Luitgard M
AU  - Salviati,Leonardo
AU  - Coerdt,Wiltrud
AU  - Jacquemin,Emmanuel
AU  - Wuyts,Wim
AU  - Zenker,Martin
AU  - Machado,Rajiv D
AU  - Trembath,Richard C
TI  - Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies
SN  - 1942-3268
PY  - 2016///0520
KW  - Adolescent
KW  - Adult
KW  - Base Sequence
KW  - Child
KW  - Ectodermal Dysplasia
KW  - genetics
KW  - Exome
KW  - Family Health
KW  - Female
KW  - Gene Expression
KW  - Genetic Predisposition to Disease
KW  - Haploinsufficiency
KW  - Heart Defects, Congenital
KW  - Humans
KW  - Limb Deformities, Congenital
KW  - Male
KW  - Middle Aged
KW  - Models, Molecular
KW  - Pedigree
KW  - Protein Structure, Tertiary
KW  - Receptor, Notch1
KW  - chemistry
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Scalp Dermatoses
KW  - congenital
KW  - Sequence Analysis, DNA
KW  - methods
KW  - Signal Transduction
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1161/CIRCGENETICS.115.001086
ER  -