Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndrome
Author:
Affiliation:
1. UPMC Children's Hospital of Pittsburgh Pittsburgh Pennsylvania USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62422
Reference36 articles.
1. Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosis
2. Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum
3. Encephalocraniocutaneous Lipomatosis
4. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
5. Specific mosaicKRASmutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
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