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Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl.

作者信息

Topcu Yasemin, Bayram Erhan, Karaoglu Pakize, Yis Uluc, Kurul Semra Hız

机构信息

Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylül University, İzmir, Turkey.

出版信息

J Pediatr Neurosci. 2013 Sep;8(3):259-60. doi: 10.4103/1817-1745.123710.

DOI:10.4103/1817-1745.123710
PMID:24470832
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3888055/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3aba/3888055/b9805b2df4e7/JPN-8-259-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3aba/3888055/dba04e6373a4/JPN-8-259-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3aba/3888055/b9805b2df4e7/JPN-8-259-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3aba/3888055/dba04e6373a4/JPN-8-259-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3aba/3888055/b9805b2df4e7/JPN-8-259-g002.jpg

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Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report.一名歌舞伎综合征患者出现低血糖和Dandy-Walker变异型：病例报告

本文引用的文献

1
A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia.一名患有歌舞伎综合征和单侧外侧裂周围皮质发育异常的日本患者。
Brain Dev. 2011 Feb;33(2):174-6. doi: 10.1016/j.braindev.2010.04.001. Epub 2010 May 4.
2
Congenital polymicrogyria including the perisylvian region in early childhood.先天性多小脑回畸形累及儿童早期的外侧裂周围区域。
Congenit Anom (Kyoto). 2010 Mar;50(1):64-7. doi: 10.1111/j.1741-4520.2009.00253.x.
3
Structural central nervous system (CNS) anomalies in Kabuki syndrome.
BMC Med Genet. 2020 Oct 2;21(1):193. doi: 10.1186/s12881-020-01117-8.
4
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.歌舞伎综合征：新的致病性变异体、新的表型及文献复习。
Orphanet J Rare Dis. 2019 Nov 14;14(1):255. doi: 10.1186/s13023-019-1219-x.
5
Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome.伊曼纽尔综合征：一种常与歌舞伎综合征相混淆的罕见病症。
J Pediatr Neurosci. 2015 Apr-Jun;10(2):194-5. doi: 10.4103/1817-1745.159183.
6
Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.歌舞伎综合征：一个中国病例系列及突变谱的系统综述
BMC Med Genet. 2015 Apr 21;16:26. doi: 10.1186/s12881-015-0171-4.
Am J Med Genet A. 2005 Aug 15;137(1):100-3. doi: 10.1002/ajmg.a.30842.
4
Kabuki syndrome: a review.歌舞伎综合征：综述
Clin Genet. 2005 Mar;67(3):209-19. doi: 10.1111/j.1399-0004.2004.00348.x.
5
Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome.一名歌舞伎综合征患者的癫痫与外侧裂周多小脑回畸形
Dev Med Child Neurol. 2003 Dec;45(12):841-3. doi: 10.1017/s0012162203001567.
6
Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome.
Am J Med Genet. 2002 Sep 1;111(4):448-9. doi: 10.1002/ajmg.10573.
7
Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome.
Pediatr Neurol. 1999 Aug;21(2):566-8. doi: 10.1016/s0887-8994(99)00030-2.
8
Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management.十三例丹川-黑木综合征：报告及综述，重点关注医学并发症及预防性管理
Am J Med Genet. 1998 Sep 1;79(2):112-20. doi: 10.1002/(sici)1096-8628(19980901)79:2<112::aid-ajmg7>3.0.co;2-s.
9
Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients.
Cleft Palate Craniofac J. 1995 Jan;32(1):77-84. doi: 10.1597/1545-1569_1995_032_0077_ksurpi_2.3.co_2.
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A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation.一种新的畸形综合征，其特征为睑裂长、耳朵大、鼻尖凹陷以及伴有出生后侏儒症和智力迟钝的骨骼异常。
J Pediatr. 1981 Oct;99(4):570-3. doi: 10.1016/s0022-3476(81)80256-9.