Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference10 articles.
1. Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, et al: Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J Med Genet A 158A:1083-1094 (2012).
2. Allanson JE: Noonan syndrome. J Med Genet 24:9-13 (1987).
3. Carta C, Pantaleoni F, Bocchinfuso G, Stella L, Vasta I, et al: Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet 79:129-135 (2006).
4. Erickson BP, Tse DT: Management of neonatal proptosis: a systematic review. Surv Ophthalmol 59:378-392 (2014).
5. Manci EA, Martinez JE, Horenstein MG, Gardner TM, Ahmed A, et al: Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. Am J Med Genet 137:1-8 (2005).
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