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UnknownBiallelic IARS2 mutations presenting as sideroblastic anemia.
Not available
S-EPMC8018106 | biostudies-literature
UnknownGain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Not available
S-EPMC4004585 | biostudies-literature
UnknownIncontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.
Not available
S-EPMC11448874 | biostudies-literature
UnknownDiagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience.
Not available
S-EPMC7169406 | biostudies-literature
UnknownMutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature.
Not available
S-EPMC4154508 | biostudies-literature
UnknownRare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Not available
S-EPMC10074346 | biostudies-literature
UnknownRecurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Not available
S-EPMC10859498 | biostudies-literature
UnknownInternational retrospective natural history study of LMNA-related congenital muscular dystrophy.
Not available
S-EPMC8260964 | biostudies-literature
UnknownThe clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Not available
S-EPMC7713742 | biostudies-literature
UnknownDiagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.
Not available
S-EPMC10034368 | biostudies-literature
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