Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene. [electronic resource]
Producer: 20150904Description: 14-20 p. digitalISSN:- 1878-0849
- Adult
- Child
- Child, Preschool
- Ectodermal Dysplasia -- diagnosis
- Facies
- Failure to Thrive -- diagnosis
- Female
- Heart Defects, Congenital -- diagnosis
- Humans
- MAP Kinase Kinase 1 -- genetics
- MAP Kinase Kinase 2 -- genetics
- Male
- Mutation
- Phenotype
- Poland -- epidemiology
- Proto-Oncogene Proteins B-raf -- genetics
- White People -- genetics
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.