In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report

In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report

<b>Background:</b> Congenital disorder of glycosylation (CDG) is a severe morphogenic and metabolic disorder that affects all of the systems of organs and is caused by a mutation of the gene <i>PMM2</i>, having a mortality rate of 20% during the first months of life. <b>...

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Bibliographic Details
Main Authors: Bogdan Doroftei, Loredana Nemtanu, Ovidiu-Dumitru Ilie, Gabriela Simionescu, Iuliu Ivanov, Emil Anton, Maria Puiu, Radu Maftei
Format: Article
Language:English
Published: MDPI AG 2020-06-01
Series:Genes
Subjects:
in vitro fertilisation
preimplantation genetic testing for monogenic diseases
congenital disorder of glycosylation type Ia
Online Access:https://www.mdpi.com/2073-4425/11/6/697

Internet

https://www.mdpi.com/2073-4425/11/6/697

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