Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.

Scuderi, Carmela; Saccuzzo, Lucia; Vinci, Mirella; Castiglia, Lucia; Galesi, Ornella; Salemi, Michele; Mattina, Teresa; Borgione, Eugenia; Città, Santina; Romano, Corrado; Fichera, Marco

Scuderi, Carmela; Saccuzzo, Lucia; Vinci, Mirella; Castiglia, Lucia; Galesi, Ornella; Salemi, Michele; Mattina, Teresa; Borgione, Eugenia; Città, Santina; Romano, Corrado; Fichera, Marco.

Affiliation

Scuderi C; Oasi Research Institute-IRCCS, Troina, Italy.
Saccuzzo L; Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy.
Vinci M; Oasi Research Institute-IRCCS, Troina, Italy.
Castiglia L; Oasi Research Institute-IRCCS, Troina, Italy.
Galesi O; Oasi Research Institute-IRCCS, Troina, Italy.
Salemi M; Oasi Research Institute-IRCCS, Troina, Italy.
Mattina T; Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy.
Borgione E; Oasi Research Institute-IRCCS, Troina, Italy.
Città S; Oasi Research Institute-IRCCS, Troina, Italy.
Romano C; Oasi Research Institute-IRCCS, Troina, Italy.
Fichera M; Oasi Research Institute-IRCCS, Troina, Italy. marco.fichera@unict.it.

Eur J Hum Genet ; 27(4): 594-602, 2019 04.

Article in En | MEDLINE | ID: mdl-30659260

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Atrophy / Cerebellar Ataxia / Intellectual Disability / Nerve Tissue Proteins Type of study: Guideline / Prognostic_studies / Risk_factors_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Italia Country of publication: Reino Unido

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