Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling

Publisher： Karger

E-ISSN： 1424-859x|145|1|25-28

ISSN： 1424-8581

Source： Cytogenetic and Genome Research, Vol.145, Iss.1, 2015-03, pp. : 25-28

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

Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation

By  

Cardiology, Vol. 123, Iss. 3, 2012-11 ,pp. : 181-189

Karger

Access to resources Recommend Favorite

Case of non‐Herlitz junctional epidermolysis bullosa with COL17A1 mutation

By  

THE JOURNAL OF DERMATOLOGY, Vol. 42, Iss. 3, 2015-03 ,pp. : 323-325

John Wiley & Sons Inc

Access to resources Recommend Favorite

Gene diagnosis and prenatal genetic diagnosis of a case of dystrophic epidermolysis bullosa family caused by gonadosomatic mosaicism for the COL7A1 mutation p.Gly2043Arg in the pregnant mother

By  

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Vol. 30, Iss. 9, 2016-09 ,pp. : 1627-1629

John Wiley & Sons Inc

Access to resources Recommend Favorite

Improved genetic counseling in Alport syndrome by new variants of COL4A5 gene

By  

NEPHROLOGY, Vol. 20, Iss. 7, 2015-07 ,pp. : 502-505

John Wiley & Sons Inc

Access to resources Recommend Favorite

Myeloid neoplasm with translocation t(2;11)(p21;q23‐24), elevated microRNA 125b‐1, and JAK2 exon 12 mutation

By  

BRITISH JOURNAL OF HAEMATOLOGY, Vol. 169, Iss. 2, 2015-04 ,pp. : 290-293

John Wiley & Sons Inc

Access to resources Recommend Favorite