Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103735
Abstract: Pathogenic variants in the IQSEC2 gene including nonsense, frameshift, splice-alterations, deletions, and missense changes have been identified in individuals with X-linked mental retardation. Although highly variable, clinical features may include hypotonia, moderate to severe delayed… read more here.
Keywords: genotype phenotype; phenotype correlation; variant type; iqsec2 gene ... See more keywords
Clinical features of early-stage possible Behçet’s disease patients with a variant-type major organ involvement in Japan
Sign Up to like & getrecommendations! Published in 2018 at "Modern Rheumatology"
DOI: 10.1080/14397595.2018.1494501
Abstract: Abstract Background: Clinical data of patients with entro-, vasculo-, and neuro-variant possible Behçet’s disease (BD) based on Japanese criteria has not yet comprehensively reported. Methods: This ongoing nation-wide registration has been carried out by the… read more here.
Keywords: neuro variant; variant possible; possible beh; variant type ... See more keywords
A new POLH mutation in a consanguineous Chinese family with xeroderma pigmentosum variant type
Sign Up to like & getrecommendations! Published in 2022 at "Clinical and Experimental Dermatology"
DOI: 10.1111/ced.15313
Abstract: We report a Chinese consanguineous family with a variant type of xeroderma pigmentosum (XPV), and identified one novel mutation in the patient. Our study expands the mutational spectrum of XPV. read more here.
Keywords: variant type; xeroderma pigmentosum; family;
Variant type of leiomyomas: 13 years of experience in a single institution.
Sign Up to like & getrecommendations! Published in 2021 at "Ginekologia polska"
DOI: 10.5603/gp.a2021.0125
Abstract: OBJECTIVES Our understanding of a variant type of leiomyoma lags far behind of leiomyoma/leiomyosarcoma of the uterus. The rarity of variant type leiomyomas limits epidemiologic study, evidence-based guidance for diagnosis and treatment. We aimed to… read more here.
Keywords: type leiomyomas; type leiomyoma; variant type; type ... See more keywords