A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

Gripp, Karen W

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. [electronic resource] - American journal of medical genetics. Part A 09 2016 - 2237-47 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

1552-4833

10.1002/ajmg.a.37781 doi


Brain--pathology
Child
Child, Preschool
Dandy-Walker Syndrome--diagnosis
Diagnostic Imaging
Exome
Facies
Female
Genetic Association Studies
Genetic Testing
High-Throughput Nucleotide Sequencing
Humans
Loose Anagen Hair Syndrome--diagnosis
Male
Mutation, Missense
Noonan Syndrome--diagnosis
Phenotype
Protein Phosphatase 1--genetics
Young Adult
ras Proteins--metabolism