Neurodevelopmental Disorders and the Mystery of the Genes Involved: A Case Report of a BICRA Heterozygous Mutation Identified in Autism Spectrum Disorder.

Pathogenic variants in the BRD4 interacting chromatin remodeling complex associated protein (BICRA) are linked to BICRA-related neurodevelopmental disorders. These disorders are characterized by developmental delay, intellectual disability, and dysmorphic facial features, along with behavioral abnormalities, poor growth, vision abnormalities, and feeding difficulties. We present the case of a three-year-old male diagnosed with autism spectrum disorder (ASD), developmental speech delay, and epilepsy.

MED13 Gene Mutation Related to Autism Spectrum Disorder: A Case Report.

This case report highlights an association between the MED13 gene and autism spectrum disorder (ASD). ASD is a neurodevelopmental disorder characterized by impaired social interactions, communication difficulties, and repetitive behaviors. The MED13 gene encodes a subunit of the Mediator complex, which plays a key role in gene expression regulation and transcriptional processes.

Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner Syndrome.

Wiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder that is caused by mutations in the gene. This case reports a two-year-old male's diagnosis of WDSTS via a heterozygous variant of uncertain significance (VUS) (c.11735G>A(p.

Vitamin D levels and fracture risk among Hispanic children.

Purpose: There is a lack of knowledge about whether low vitamin D levels increase the risk of pediatric low-energy fractures among Hispanic population. The objective of this study is to determine whether there is a direct relationship between low vitamin D levels and the incidence of low-energy fractures in Hispanic children.

Method: Cases included all consecutive patients evaluated with low-energy fractures in the pediatric orthopedic clinic.