| 概要 |
Roifman syndrome is a multi-system disorder with a physical phenotype that includes B-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy, and characteristic facial dysmorphism. Recently, whole-genome sequencing of Roifman syndrome patients have demonstrated that Roifman syndrome is caused by compound heterozygous single-nucleotide variants (SNVs) in the minor spliceosomal small nuclear RNA (snRNA) gene RNU4ATAC, which was already implicated in a severe congenital disorder, microcephalic osteodysplastic primordial dwarfism, type I (MOPD1) [DS: H00993]. Roifman syndrome is phenotypically distinct from MOPD1.
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| 著者 |
Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW |
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