[Genetic and phenotypic analysis of three children with Neurodevelopmental disorders due to variants of DEAF1 gene].

Genotype–Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations

Objective PRRT2 mutations are associated with a wide spectrum of paroxysmal neurologic disorders. In this study, we analyze clinical and genetic data from a large pediatric cohort to define genotype–phenotype correlations and to provide a basis for individualized genetic counseling. Methods This retrospective study inc...

[Analysis of the prenatal and postnatal clinical features of six cases of Williams syndrome and a literature review].

[Clinical manifestation and analysis of FBN1 gene variants in eight patients with Marfan syndrome].

Findings have enriched the mutational spectrum of the FBN1 gene among Chinese MFS patients and provided a basis for the genetic counseling and clinical management.

[Clinical characterization and genetic analysis of a patient with Fahr disease due to a homozygous variant of JAM2 gene].

The patient had developed unsteady gait 6 months before without clear cause, manifesting as a feeling of heaviness in the head and lightness in the feet, a sensation of walking on cotton wool when standing or walking, and the detection of the novel variant has enriched the mutational spectrum of the JAM2 gene.

Phenotypic and genetic characteristics of children with developmental delay or intellectual disability: a cohort from Northwest China.

BACKGROUND Intellectual disability/global developmental delay (ID/GDD) is a common neurodevelopmental disorder in childhood. In this study, the causal effects of genetic variant categories on clinical phenotypes in children with ID/GDD from Northwest China were examined under a prespecified analysis controlling all mea...

[Analysis of clinical spectrum and genotype characteristics of 9 cases of Fabry disease].

Atypical presentations in patients with Fabry disease exhibit a broad clinical spectrum and diverse genotypes and should be closely monitored to enable early diagnosis and treatment, thereby improving prognosis.