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Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype-Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant.
Mol Genet Genomic Med
January 2025
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: X-linked intellectual disability (XLID) is a genetically heterogeneous disorder that results in cognitive impairment and developmental delays. Mutations in the KDM5C gene have been identified as a causative factor in XLID. This study aimed to identify novel variants associated with XLID and to investigate the clinical and genetic characteristics of XLID patients with mutations in the KDM5C gene.
View Article and Find Full Text PDFDias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report.
SAGE Open Med Case Rep
January 2025
Department of Reproductive Medicine, Zhejiang Provincial Hospital of Integrated Traditional Chinese and Western Medicine & Hangzhou Red Cross Hospital, Zhejiang Chinese Medical University, Hangzhou, Zhejiang Province, China.
Dias-Logan syndrome, also known as intellectual developmental disorder with persistence of fetal hemoglobin (HbF), or -related intellectual developmental disorder, is an extremely rare neurogenetic disorder characterized by intellectual disability (ID), delayed psychomotor development, variable dysmorphic features, and asymptomatic persistence of fetal hemoglobin. The prevalence and incidence of this condition are currently unknown. We report an 8-year-old Han Chinese male patient with Dias-Logan syndrome who carries a heterozygous pathogenic variant, c.
View Article and Find Full Text PDFA Single-Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates.
JIMD Rep
January 2025
Genetic and Metabolic Division, Pediatrics Department Tawam Hospital Al Ain UAE.
Background: Tetrahydrobiopterin (BH4) deficiencies comprise a group of five neurometabolic disorders caused by five genetic defects responsible for BH4 biosynthesis and regeneration. Their global prevalence remains unknown, and variance exists among different countries.
Aims: To describe clinical, biochemical, molecular genetic data and follow-up of patients with BH4 deficiency seen in Tawam Hospital.
Assessing the Impact of Early Nutritional Intervention on Pediatric Celiac Disease Management: A Prospective Cohort Study.
Cureus
December 2024
Medicine, Basic Health Unit 155/wb, Vehari, PAK.
Background: Celiac disease is a chronic autoimmune condition requiring lifelong adherence to a gluten-free diet, particularly in children, to prevent nutritional deficiencies and developmental delays.
Objective: The objective of study was to evaluate the effects of early nutritional intervention on the management and health outcomes of children diagnosed with celiac disease.
Methodology: A prospective, longitudinal cohort study was conducted over two years (July 2019-July 2021).
Palovarotene in fibrodysplasia ossificans progressiva: review and perspective.
Expert Opin Pharmacother
January 2025
Amsterdam University Medical Center (Amsterdam UMC), location VU University Medical Center (VUMC), Amsterdam, Netherlands.
Introduction: Palovarotene is a retinoic acid receptor gamma agonist that was studied in phase-2 and phase-3 clinical trials for the inhibition of new heterotopic ossification (HO) in fibrodysplasia ossificans progressiva (FOP). Despite numerous setbacks and regulatory delays, palovarotene is now the first approved FOP treatment in the U.S.
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