Item talk:Q317048
From geokb
{
"OpenAlex": { "id": "https://openalex.org/T13738", "display_name": "CHARGE Syndrome and Related Genetic Disorders", "description": "This cluster of papers focuses on CHARGE syndrome, a genetic disorder caused by mutations in the CHD7 gene. It covers a wide range of topics including the phenotypic spectrum, diagnostic criteria, craniofacial and neurological abnormalities, as well as related conditions such as choanal atresia and hypogonadotropic hypogonadism.", "keywords": [ "CHD7 Gene", "Genetic Mutations", "Neural Crest Formation", "Phenotypic Spectrum", "Diagnostic Criteria", "Craniofacial Development", "Hypogonadotropic Hypogonadism", "Choanal Atresia", "Cochlear Implantation", "Neurological Abnormalities" ], "ids": { "openalex": "https://openalex.org/T13738", "wikipedia": "https://en.wikipedia.org/wiki/CHARGE_syndrome" }, "subfield": { "id": "https://openalex.org/subfields/2716", "display_name": "Genetics" }, "field": { "id": "https://openalex.org/fields/27", "display_name": "Medicine" }, "domain": { "id": "https://openalex.org/domains/4", "display_name": "Health Sciences" }, "siblings": [ { "id": "https://openalex.org/T12199", "display_name": "Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia" }, { "id": "https://openalex.org/T12400", "display_name": "Gene Therapy for Spinal Muscular Atrophy" }, { "id": "https://openalex.org/T10554", "display_name": "Genetic and Clinical Aspects of Hemoglobin Disorders" }, { "id": "https://openalex.org/T11157", "display_name": "Genomic Aberrations and Treatment of Chronic Lymphocytic Leukemia" }, { "id": "https://openalex.org/T10129", "display_name": "Gliomas" }, { "id": "https://openalex.org/T11917", "display_name": "Hereditary Angioedema: Molecular Mechanisms and Clinical Management" }, { "id": "https://openalex.org/T11628", "display_name": "Molecular Pathogenesis of Myeloproliferative Disorders" }, { "id": "https://openalex.org/T10176", "display_name": "Multipotent Mesenchymal Stem Cells" } ], "works_count": 9014, "cited_by_count": 92756, "updated_date": "2024-08-26T05:19:13.574225", "created_date": "2024-01-23" }
}