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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...
Autores principales: | Doroftei, Bogdan, Nemtanu, Loredana, Ilie, Ovidiu-Dumitru, Simionescu, Gabriela, Ivanov, Iuliu, Anton, Emil, Puiu, Maria, Maftei, Radu |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
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 |
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