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Article

Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2019

Leach N T, Wilson Mathews D R, Rosenblum L S, Zhou Z, Zhu H, Heim R A

Abstract excerpt

PURPOSE: To compare the pattern of gene-specific involvement and the spectrum of variants observed in prenatal and postnatal (mean ± SD, 8.9 ± 9.4 years) cohorts tested for Noonan syndrome and related conditions. METHODS: Outcomes of sequencing panel testing were compared between prenatal (n = 845) and postnatal (n = 409) cohorts. RESULTS: PTPN11 and SOS1 harbored the majority of observed variants in both...

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Source

Identifiers

PMID: 29907801
DOI: 10.1038/s41436-018-0062-0

Genes

PTPN11
SOS1
BRAF
HRAS
KRAS
RAF1

Provenance

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