Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked ILA...
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked ILAS1L/I Gene
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Publisher
MDPI AG
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Language
English
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Publisher
MDPI AG
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Contents
LAS1L encodes a nucleolar ribosomal biogenesis protein and is also a component of the Five Friends of Methylated CHTOP (5FMC) complex. Mutations in the LAS1L gene can be associated with Wilson–Turner syndrome (WTS) and, much more rarely, severe infantile hypotonia with respiratory failure. Here, we present an eighteen-month old boy with a phenotype...
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Full title
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked ILAS1L/I Gene
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TN_cdi_gale_infotracmisc_A722095010
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A722095010
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes13050725
