A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. [electronic resource]
Producer: 20171019Description: 2237-47 p. digitalISSN:- 1552-4833
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
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