Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation

Publisher： Karger

E-ISSN： 1661-8777|4|3|152-156

ISSN： 1661-8769

Source： Molecular Syndromology, Vol.4, Iss.3, 2013-01, pp. : 152-156

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

Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation

By  

Molecular Syndromology, Vol. 3, Iss. 4, 2012-08 ,pp. : 180-184

Karger

Access to resources Recommend Favorite

Identical Mutation in SH3BP2 Gene Causes Clinical Phenotypes with Different Severity in Mother and Daughter – Case Report

By  

Molecular Syndromology, Vol. 1, Iss. 2, 2010-06 ,pp. : 87-90

Karger

Access to resources Recommend Favorite

A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome

By  

Molecular Syndromology, Vol. 8, Iss. 2, 2017-01 ,pp. : 107-109

Karger

Access to resources Recommend Favorite

A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann–Steiner Syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 9, 2015-09 ,pp. : 2182-2187

John Wiley & Sons Inc

Access to resources Recommend Favorite

Schinzel–Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 5, 2015-05 ,pp. : 1039-1046

John Wiley & Sons Inc

Access to resources Recommend Favorite