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Article

A severe clinicopathologic phenotype of RAF1 Ser257Leu neomutation in a preterm infant without cardiac anomaly.

American journal of medical genetics. Part A - 1 Feb 2023

Darouich Sihem, Chakroun Ahmed Sahbi, Bellamine Houda, Khamassi Ichrak

Abstract excerpt

Phenotype analysis of the Noonan syndrome (NS) related to RAF1 mutations demonstrates that a high proportion of cases exhibit severe lymphatic dysplasia and congenital heart disease, especially hypertrophic cardiomyopathy. Because of the difficulty of fetal phenotypic assessment, the percentage of cases with multisystemic prenatal presentation as well as the phenotypic variability may be underestimated. We...

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Identifiers

PMID: 36333975
DOI: 10.1002/ajmg.a.63035

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