Nicolaides-Baraitser syndrome: defining a phenotype. [electronic resource]
Producer: 20170411Description: 1659-60 p. digitalISSN:- 1432-1459
- Adult
- Facies
- Female
- Foot Deformities, Congenital -- complications
- Humans
- Hyperinsulinism -- etiology
- Hypotrichosis -- complications
- Intellectual Disability -- complications
- KRIT1 Protein
- Microtubule-Associated Proteins -- genetics
- Mutation -- genetics
- Phenotype
- Proto-Oncogene Proteins -- genetics
- Transcription Factors -- genetics
No physical items for this record
Publication Type: Case Reports; Letter
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