由于HRAS基因p.Gly12Val突变导致的新生儿致死性科斯特洛综合征与胎儿水肿有关，而非过度生长。 - Suppr

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超能文献

Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.

作者信息

Bend Eric G, Louie Raymond J, Stevenson Roger E

机构信息

Greenwood Genetic Center, Greenwood, South Carolina, USA.

出版信息

Clin Dysmorphol. 2019 Apr;28(2):71-73. doi: 10.1097/MCD.0000000000000260.

DOI:10.1097/MCD.0000000000000260

PMID:30664540

Abstract

摘要

相似文献

Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.

Clin Dysmorphol. 2019 Apr;28(2):71-73. doi: 10.1097/MCD.0000000000000260.

Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.

Eur J Med Genet. 2017 Jul;60(7):395-398. doi: 10.1016/j.ejmg.2017.03.014. Epub 2017 Apr 25.

Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level.

Biochem Genet. 2009 Dec;47(11-12):868-72. doi: 10.1007/s10528-009-9286-7.

Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser.

Prenat Diagn. 2017 Apr;37(4):409-411. doi: 10.1002/pd.5009. Epub 2017 Feb 23.

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

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The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.

Am J Med Genet A. 2016 Jun;170(6):1433-8. doi: 10.1002/ajmg.a.37596. Epub 2016 Feb 17.

De novo HRAS gene mutation associated with Costello syndrome identified by non-invasive cell-free fetal DNA screening.

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Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.

Am J Med Genet A. 2010 Nov;152A(11):2861-4. doi: 10.1002/ajmg.a.33687.

Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations.

Ultrasound Obstet Gynecol. 2020 Feb;55(2):274-275. doi: 10.1002/uog.20281.

Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.

Am J Med Genet A. 2017 May;173(5):1342-1347. doi: 10.1002/ajmg.a.38110. Epub 2017 Mar 23.

引用本文的文献

Multidisciplinary Management of Costello Syndrome: Current Perspectives.

J Multidiscip Healthc. 2022 Jun 2;15:1277-1296. doi: 10.2147/JMDH.S291757. eCollection 2022.

Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.

Mol Syndromol. 2022 Feb;13(1):1-11. doi: 10.1159/000517605. Epub 2021 Sep 10.

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Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.

作者信息

Bend Eric G, Louie Raymond J, Stevenson Roger E

机构信息

Greenwood Genetic Center, Greenwood, South Carolina, USA.

出版信息

Clin Dysmorphol. 2019 Apr;28(2):71-73. doi: 10.1097/MCD.0000000000000260.

DOI:10.1097/MCD.0000000000000260

PMID:30664540

Abstract

摘要

相似文献

Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.

Clin Dysmorphol. 2019 Apr;28(2):71-73. doi: 10.1097/MCD.0000000000000260.

Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.

Eur J Med Genet. 2017 Jul;60(7):395-398. doi: 10.1016/j.ejmg.2017.03.014. Epub 2017 Apr 25.

Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level.

Biochem Genet. 2009 Dec;47(11-12):868-72. doi: 10.1007/s10528-009-9286-7.

Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser.

Prenat Diagn. 2017 Apr;37(4):409-411. doi: 10.1002/pd.5009. Epub 2017 Feb 23.

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

Eur J Med Genet. 2012 Nov;55(11):615-9. doi: 10.1016/j.ejmg.2012.07.007. Epub 2012 Aug 7.

The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.

Am J Med Genet A. 2016 Jun;170(6):1433-8. doi: 10.1002/ajmg.a.37596. Epub 2016 Feb 17.

De novo HRAS gene mutation associated with Costello syndrome identified by non-invasive cell-free fetal DNA screening.

Prenat Diagn. 2021 Jan;41(1):11-14. doi: 10.1002/pd.5798. Epub 2020 Sep 9.

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.

Am J Med Genet A. 2010 Nov;152A(11):2861-4. doi: 10.1002/ajmg.a.33687.

Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations.

Ultrasound Obstet Gynecol. 2020 Feb;55(2):274-275. doi: 10.1002/uog.20281.

Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.

Am J Med Genet A. 2017 May;173(5):1342-1347. doi: 10.1002/ajmg.a.38110. Epub 2017 Mar 23.

引用本文的文献

Multidisciplinary Management of Costello Syndrome: Current Perspectives.

J Multidiscip Healthc. 2022 Jun 2;15:1277-1296. doi: 10.2147/JMDH.S291757. eCollection 2022.

Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.

Mol Syndromol. 2022 Feb;13(1):1-11. doi: 10.1159/000517605. Epub 2021 Sep 10.