Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping

Publisher： Karger

E-ISSN： 1661-8777|5|6|259-267

ISSN： 1661-8769

Source： Molecular Syndromology, Vol.5, Iss.6, 2014-08, pp. : 259-267

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

A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome

By  

Public Health Genomics, Vol. 20, Iss. 3, 2017-07 ,pp. : 188-193

Karger

Access to resources Recommend Favorite

Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld–Rieger syndrome

By Priston M.  

Human Molecular Genetics, Vol. 10, Iss. 16, 2001-08 ,pp. : 1631-1638

Oxford University Press

Access to resources Recommend Favorite

Tumor development in the Beckwith–Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1

By Weksberg Rosanna  

Human Molecular Genetics, Vol. 10, Iss. 26, 2001-12 ,pp. : 2989-3000

Oxford University Press

Access to resources Recommend Favorite

Germline and somatic KLLN alterations in breast cancer dysregulate G2 arrest

By Nizialek Emily A.   Peterson Charissa   Mester Jessica L.   Downes-Kelly Erinn   Eng Charis  

Human Molecular Genetics, Vol. 22, Iss. 12, 2013-06 ,pp. : 2451-2461

Oxford University Press

Access to resources Recommend Favorite

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

By Nazlican Hülya  

Human Molecular Genetics, Vol. 13, Iss. 21, 2004-11 ,pp. : 2547-2555

Oxford University Press

Access to resources Recommend Favorite