Polymorphism of clinical manifestations of orphan diseases in children with ARID1A and ARID1B gene mutations
V.I. Tsymbalyuk,
Yu.G. Antipkin,
L.G. Kyrylova
et al.
Abstract:The Department of Psychoneurology for Children with Perinatal Pathology and Orphan Diseases at the SI “Institute of Pediatrics, Obstetrics and Gynecology named after academician O.M. Lukyanova of the NAMS of Ukraine” has a multidisciplinary team which provides care to children with orphan diseases from all over Ukraine. Thanks to modern methods of clinical, instrumental and genetic diagnostics, it is possible to establish a definitive diagnosis. Aim - to provide a literature review and a clinical case of a chi… Show more
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