An ACSL4 Hemizygous Intragenic Deletion in a Patient With Childhood Stroke
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health
Reference11 articles.
1. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation;Meloni;Nat Genet,2002
2. A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients;Longo;J Med Genet,2003
3. X inactivation testing for identifying a non-syndromic X-linked mental retardation gene;Yonath;J Appl Genet,2011
4. FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation;Piccini;Genomics,1998
5. Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3;Rodriguez;Am J Med Genet A,2010
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1. An update on the therapeutic implications of long-chain acyl-coenzyme A synthetases in nervous system diseases;Frontiers in Neuroscience;2022-11-24
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