Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder
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DOI: 10.1111/cge.14275
Abstract: Pathogenic variants in CWF19L1 lead to a rare autosomal recessive form of hereditary ataxia with only seven cases reported to date. Here, we describe four additional unrelated patients with biallelic variants in CWF19L1 (age range:… read more here.
Keywords: related disorder; spectrum; expansion phenotypic; cwf19l1 related ... See more keywords