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Findings support tailored multigene panel testing as an effective diagnostic strategy in patients with marfanoid habitus.
In this single-center pediatric BBS cohort, SPISE tracked continuous MetS burden and showed numerically stronger discrimination for MetS than insulin-derived indices, highlighting the potential utility of SPISE as a feasible tool for cardiometabolic monitoring in syndromic obesity, where laboratory access may be limite...
The relationship between electroclinical features and etiology, as well as the genotype-phenotype characterizations and prognosis with genetically determined DEEs, are defined and several novel variants in disease-associated genes are described.
SCN1A-confirmed DS is associated with substantial seizure burden and neurodevelopmental morbidity, and delayed molecular diagnosis may lead to inappropriate treatment exposure and seizure worsening.
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