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Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : evidence supporting a "Definitive" gene-disease relationship

2019-12-31

Abstract excerpt

<title>Abstract</title> <p>Background: A very limited spectrum of ASCC1 pathogenic variants had been reported in five (mostly consanguineous) families with spinal muscular atrophy with congenital bone fractures 2 [OMIM #616867] since 2016. <h4>Methods:</h4> A proband from a non-consanguineous Chinese family presented with neonatal severe hypotonia, respiratory distress, muscle weakness and atrophy, as well as con...

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Literature Corpus work: 7756d457-fde7-52c0-8143-5d447b6fc30a
DOI: 10.21203/rs.2.19730/v1

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