Atypical phenotype? The answer’s in the genotype: AGS caused by a novel RNASEH2C variant combined with XLA caused by a BTK deficiency
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منابع مشابه
Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report
Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech dela...
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BACKGROUND X-linked agammaglobulinaemia (XLA) is the most common inherited humoural immunodeficiency disorder. Mutations in the gene coding for Bruton's tyrosine kinase (BTK) have been identified as the cause of XLA. Most affected patients exhibit a marked reduction of serum immunoglobulins, mature B cells, and an increased susceptibility to recurrent bacterial infections. However, the diagnosi...
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ژورنال
عنوان ژورنال: Rheumatology
سال: 2021
ISSN: ['1462-0324', '1462-0332']
DOI: https://doi.org/10.1093/rheumatology/keab051