GENETIC disordersCHILD patientsPRECOCIOUS pubertySYMPTOMSDNA copy number variationsADRENOGENITAL syndromeDORSIFLEXIONBackground: Clinicians traditionally aim to identify a singular explanation for the clinical presentation of a patient; however, in some cases, the diagnosis may remain elusive or fail to ...
This review specifically addresses the concept that individualized, genome-informed treatments for ultra-rare genetic disorders are quintessentially N-of-1 clinical studies.doi:10.1517/21678707.2014.979153Smith, Laurie DKingsmore, Stephen FExpert Opinion on Orphan Drugs...
Founded by Erin Santos in memory of her daughter Isabella, who bravely fought neuroblastoma, the blog aims to raise awareness, support families, and fund research for rare childhood cancers. Erin and her team, including dedicated volunteers and contributors, work tirelessly to continue Isabella's ...
The genetic bases of these disorders are generally well defined, there is the potential for diagnosis at birth or prenatally, and there are several therapeutic options available or under development. 展开 关键词: Personalized medicine Rare disease Pediatric population Neurological impairment Biomarker ‘...
Pediatric IgG4‐related lymphadenopathy: A rare condition associated with autoimmunity and lymphoproliferative disordersIgG4‐related disease (IgG4㏑D) is a clinical﹑athological entity characterized by tissue‐based tumor lesions, histologically featuring (i) a dense lymphoplasmacytic infiltrate with ...
To examine the overall genomic copy-number variant (CNV) landscape of Chinese pediatric patients with developmental disorders. De-identified chromosomal microarray (CMA) data from 10,026 pediatric patients with developmental disorders were collected for
Caroli disease and Caroli syndrome are rare congenital disorders of the intrahepatic bile ducts. They are both characterized by dilatation of the intrahepatic biliary tree.
Introduction: Disorders of sexual development (DSD) occur when the appearance of the internal and/or external genitalia is at variance with normal development for either sex. We reviewed the characteristics of patients with DSD. Patients: Two hundred and eight children aged from newborn to 19 year...
We report a 10-year-old girl with the juvenile type of dentatorubral pallidoluysian atrophy. There were no affected family members, suggesting a sporadic case. Deoxyribonucleic acid analysis for the dentatorubral pallidoluysian atrophy gene was performed, and the CAG trinucleotide repeat numbers ...
Kruglyak and his colleagues had tested the technology on a rare early onset blindness condition and wanted to expand the study to see how well it might work in finding new or "de novo" genetic variants that aren't inherited from parents, but instead show up first in the child. Such varian...