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المؤلفون: Christina Fenger, Trine Bjørg Hammer, Cathrine E. Gjerulfsen, Allan Bayat, Rikke S. Møller

المصدر: Gjerulfsen, C E, Møller, R S, Fenger, C D, Hammer, T B & Bayat, A 2021, ' Expansion of the CCDC22 associated ritscher-schinzel/3C syndrome and review of the literature : Should the minimal diagnostic criteria be revised? ', European Journal of Medical Genetics, vol. 64, no. 7, 104246 . https://doi.org/10.1016/j.ejmg.2021.104246

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Pediatrics, medicine.medical_specialty, RTSCS, Fossa, Adolescent, Mutation, Missense, Disease, 030105 genetics & heredity, Heart Septal Defects, Atrial, Craniofacial Abnormalities, Diagnosis, Differential, 03 medical and health sciences, Epilepsy, CCDC22, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Craniofacial, Genetics (clinical), Genetic testing, medicine.diagnostic_test, biology, business.industry, Epileptic encephalopathy, Ritscher-schinzel syndrome, Proteins, General Medicine, medicine.disease, biology.organism_classification, 030104 developmental biology, Phenotype, 3C syndrome, business, Dandy-Walker Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3429650e1eba435572e67dfd5b92a206
https://portal.findresearcher.sdu.dk/da/publications/c26e193f-9a0f-4847-9c07-571bc58ddb40

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