Articles with "malan syndrome" as a keyword



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Further delineation of Malan syndrome

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Published in 2018 at "Human Mutation"

DOI: 10.1002/humu.23563

Abstract: Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with… read more here.

Keywords: malan syndrome; delineation malan; malan;
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Anesthetic Considerations in an Infant With Malan Syndrome: A Case Report.

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Published in 2022 at "A&A practice"

DOI: 10.1213/xaa.0000000000001600

Abstract: Malan syndrome, also known as Sotos-like syndrome or Sotos syndrome 2, is an overgrowth disorder that results from point mutations of the nuclear factor I/X (NFIX) gene. The phenotype consists of macrocephaly, facial dysmorphisms, hypotonia,… read more here.

Keywords: considerations infant; malan syndrome; case; infant malan ... See more keywords