TY  - GEN
AU  - Gripp,Karen W
AU  - Aldinger,Kimberly A
AU  - Bennett,James T
AU  - Baker,Laura
AU  - Tusi,Jessica
AU  - Powell-Hamilton,Nina
AU  - Stabley,Deborah
AU  - Sol-Church,Katia
AU  - Timms,Andrew E
AU  - Dobyns,William B
TI  - A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair
SN  - 1552-4833
PY  - 2017///1019
KW  - Brain
KW  - pathology
KW  - Child
KW  - Child, Preschool
KW  - Dandy-Walker Syndrome
KW  - diagnosis
KW  - Diagnostic Imaging
KW  - Exome
KW  - Facies
KW  - Female
KW  - Genetic Association Studies
KW  - Genetic Testing
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Loose Anagen Hair Syndrome
KW  - Male
KW  - Mutation, Missense
KW  - Noonan Syndrome
KW  - Phenotype
KW  - Protein Phosphatase 1
KW  - genetics
KW  - Young Adult
KW  - ras Proteins
KW  - metabolism
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1002/ajmg.a.37781
ER  -