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

• 主要な著者: Arie Adrainus Polim (著者), Nining Handayani (著者), Dian Kesumapramudya Nurputra (著者), Anggia Melanie Lubis (著者), Batara Sirait (著者), Dennis Jakobus (著者), Arief Boediono (著者), Ivan Sini (著者)
• フォーマット: 図書
• 出版事項: Shahid Sadoughi University of Medical Sciences, 2022-09-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract 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-vitrofertilization program was developed to provide a reliable genetic diagnostic method for SMA. Cas...