Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

Publisher： Karger

E-ISSN： 1661-8777|6|6|281-286

ISSN： 1661-8769

Source： Molecular Syndromology, Vol.6, Iss.6, 2016-0, pp. : 281-286

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg

By  

CONGENITAL ANOMALIES, Vol. 58, Iss. 1, 2018-01 ,pp. : 41-43

John Wiley & Sons Inc

Access to resources Recommend Favorite

Neonatal diabetes mellitus due to a novel mutation in the GATA6 gene accompanying renal dysfunction: A case report

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 4, 2015-04 ,pp. : 925-927

John Wiley & Sons Inc

Access to resources Recommend Favorite

A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 5, 2015-05 ,pp. : 1171-1174

John Wiley & Sons Inc

Access to resources Recommend Favorite

Neonatal pulmonary arterial hypertension and Noonan syndrome: Two fatal cases with a specific RAF1 mutation

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 4, 2015-04 ,pp. : 882-885

John Wiley & Sons Inc

Access to resources Recommend Favorite

Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context

By McGettrick Aileen J.   Knott Vroni   Willis Anthony   Handford Penny A.  

Human Molecular Genetics, Vol. 9, Iss. 13, 2000-08 ,pp. : 1987-1994

Oxford University Press

Access to resources Recommend Favorite