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

Background: 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 PMM2, having a mortality rate of 20% during the first months of life. Results: Here we report the outcome of an in v...

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Detalles Bibliográficos
Autores principales: Doroftei, Bogdan, Nemtanu, Loredana, Ilie, Ovidiu-Dumitru, Simionescu, Gabriela, Ivanov, Iuliu, Anton, Emil, Puiu, Maria, Maftei, Radu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349484/
https://www.ncbi.nlm.nih.gov/pubmed/32630370
http://dx.doi.org/10.3390/genes11060697

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349484/
https://www.ncbi.nlm.nih.gov/pubmed/32630370
http://dx.doi.org/10.3390/genes11060697

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