2019
DOI: 10.1016/j.medcli.2018.03.015
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Noonan syndrome: Severe phenotype and PTPN11 mutations

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Cited by 4 publications
(1 citation statement)
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“…Recent studies showed that this mutation in HeLa cells causes an inclusion of exon 18 in the transcript and an almost-undetectable 248 bp product [ 11 ]. The PTPN11 mutation (p.Met504Val) is classified as pathogenic, compatible with NS [ 12 ]. Double or triple mutations in sarcomeric genes are generally associated with a more severe phenotype [ 13 , 14 ].…”
Section: Discussionmentioning
confidence: 99%
“…Recent studies showed that this mutation in HeLa cells causes an inclusion of exon 18 in the transcript and an almost-undetectable 248 bp product [ 11 ]. The PTPN11 mutation (p.Met504Val) is classified as pathogenic, compatible with NS [ 12 ]. Double or triple mutations in sarcomeric genes are generally associated with a more severe phenotype [ 13 , 14 ].…”
Section: Discussionmentioning
confidence: 99%