Extending the critical regions for mutations in the non-coding gene RNU4ATAC in another patient with Roifman Syndrome
نویسندگان
چکیده
منابع مشابه
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of Roifman Syndrome patients to reveal compound heterozygous rare variants that disrupt highly conserved positions of the RNU4ATAC small nuclear RNA gene, a minor spliceosome component that is essential...
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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2018
ISSN: 2050-0904
DOI: 10.1002/ccr3.1830