Birth of spinal muscular atrophy unaffected baby from genetically at-risk parents following a pre-implantation genetic screening: A case report

Birth of spinal muscular atrophy unaffected baby from genetically at-risk parents following a pre-implantation genetic screening: A case report

Background: Spinal muscular atrophy (SMA) is characterized by the homozygous deletion of the survival motor neuron-1 gene. Pre-implantation genetic testing for monogenic diseases through in-vitro fertilization program was developed to provide a reliable genetic diagnostic method for SMA. Case presen...

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Bibliographic Details
Main Authors: Polim, Arie Adrainus, Handayani, Nining, Nurputra, Dian Kesumapramudya, Lubis, Anggia Melanie, Sirait, Batara, Jakobus, Dennis, Boediono, Arief, Sini, Ivan
Format: Article
Language:English
Published: Production and Hosting by Knowledge E 2022
Subjects:
Clinical Sciences
Online Access:https://repository.ugm.ac.id/284143/1/Nurputra-2_KKMK.pdf

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