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Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.

作者信息

Lestner Jodi Marianne, Chong Wui K, Offiiah Amaka, Kefas Jonathan, Vandersteen Anthony M

机构信息

North West Thames Regional Genetics Unit, Kennedy Galton Centre, North West London Hospitals NHS Trust, Northwick Park & St Marks Hospital, Harrow Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London Academic Unit of Child Health, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, South Yorkshire Lister Hospital, East and North Herts NHS Trust, Stevenage, UK.

出版信息

Clin Dysmorphol. 2012 Jul;21(3):152-154. doi: 10.1097/MCD.0b013e3283518f1e.

DOI:10.1097/MCD.0b013e3283518f1e
PMID:22473152
Abstract
摘要

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BMC Pediatr. 2024 May 6;24(1):309. doi: 10.1186/s12887-024-04779-y.
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The impact of SETBP1 mutations in neurological diseases and cancer.SETBP1 突变在神经疾病和癌症中的影响。
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Detection of a novel variant in a Chinese neonate with Schinzel-Giedion syndrome.
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Front Pediatr. 2022 Sep 6;10:920741. doi: 10.3389/fped.2022.920741. eCollection 2022.
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[Not Available].[无可用内容]
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