Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features.

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第一作者： Jessica,Galli

第一单位： Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.;Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy.

作者： Jessica,Galli ^[1] ; Erika,Loi ^[2] ; Federica,Zanardini ^[2] ; Giovanna,Baldoni ^[2] ; Francesca,Novara ^[3] ; Serena,Panigada ^[3] ; Roberto,Ciccone ^[4] ; Maria Rosa,Cutrì ^[5] ; Alice,Bertoletti ^[6] ; Lorenzo,Pinelli ^[7] ; Elisa,Fazzi ^[1]

作者单位： Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.;Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy. ^[1] Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy. ^[2] Next Lab Italy, Laboratorio di Genetica Molecolare, Pavia, Italy. ^[3] Next Lab Italy, Laboratorio di Genetica Molecolare, Pavia, Italy.;Dipartimento di Medicina Molecolare, Università di Pavia, Pavia, Italy. ^[4] Paediatric Clinic, ASST Spedali Civili of Brescia, Brescia, Italy. ^[5] Department of Neurological and Vision Sciences, ASST Spedali Civili of Brescia, Brescia, Italy. ^[6] Neuroradiology Unit, Section of Pediatric Neuroradiology, ASST Spedali Civili of Brescia, Brescia, Italy. ^[7]

关键词 Nabais Sá‐De Vries syndrome SPOP mutation intellectual disability neurodevelopmental disorder visual impairment

DOI 10.1002/ajmg.a.64007

PMID 39918173

发布时间 2025-02-07

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American journal of medical genetics. Part A

e64007页

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Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features.

American journal of medical genetics. Part A

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American journal of medical genetics. Part A

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Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features.

American journal of medical genetics. Part A

相似文献

American journal of medical genetics. Part A

相关期刊

检索历史清除