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Concurrent occurrence of a de novo MACF1 mutation and an inherited 16p13.11 microduplication in a preterm neonate with multiple congenital malformations, hypotonia, excessive joint activity, feeding difficulties and respiratory problems：a case report

2023-05-16

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold>Microtubule action crossing factor 1 (MACF1) is a large specific protein that plays an important role in regulating cytoskeleton dynamics, cell migration, growth and differentiation. 16p13.11 microduplication syndrome has various manifestations, mainly including neurodevelopmental and physiological phenotypic abnormalities caused by 16p13.11 chromosome copy numbe...

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Literature Corpus work
f8a8559a-dbc4-5198-92b0-d25294388ae3
DOI
10.21203/rs.3.rs-2896667/v1
Open publication

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