A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference10 articles.
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3. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia;Akizu;Am J Hum Genet,2013
4. Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination;Ansari-Lari;Genome Res,1997
5. Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia;Zahrani;Am J Hum Genet,2013
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