Okur‐Chung neurodevelopmental syndrome in a patient from Spain

Okur‐Chung neurodevelopmental syndrome (OCNS, MIM#617062) is a rare autosomal dominant syndrome related to CSNK2A1 mutations. It is characterized by intellectual disability, hypotonia, feeding and speech difficulties, dysmorphic features, and multisystem involvement. To date, less than 30 patients w...

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Veröffentlicht in:	American journal of medical genetics. Part A 2020-01, Vol.182 (1), p.20-24
Hauptverfasser:	Martinez‐Monseny, Antonio F., Casas‐Alba, Dídac, Arjona, César, Bolasell, Mercè, Casano, Paula, Muchart, Jordi, Ramos, Federico, Martorell, Loreto, Palau, Francesc, García‐Alix, Alfredo, Serrano, Mercedes
Format:	Artikel
Sprache:	eng
Schlagworte:	Casein Kinase II - genetics Child, Preschool CSNK2A1 Female Humans Intellectual disabilities Intellectual Disability - diagnosis Intellectual Disability - genetics Magnetic resonance imaging Musculoskeletal Abnormalities - diagnosis Musculoskeletal Abnormalities - genetics Musculoskeletal Abnormalities - pathology Mutation Mutation - genetics Neurodevelopmental disorders Neurodevelopmental Disorders - diagnosis Neurodevelopmental Disorders - genetics Neurodevelopmental Disorders - pathology Okur‐Chung neurodevelopmental syndrome Olfactory bulb Olfactory Bulb - pathology Pituitary Pituitary Gland - pathology pituitary gland duplication Vertebrae
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