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The Nance-Horan syndrome.

作者信息

Walpole I R, Hockey A, Nicoll A

机构信息

University Department of Paediatrics, Princess Margaret Hospital for Children, Western Australia.

出版信息

J Med Genet. 1990 Oct;27(10):632-4. doi: 10.1136/jmg.27.10.632.

DOI:10.1136/jmg.27.10.632
PMID:2246772
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017242/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e06b/1017242/c06c1d6e6c73/jmedgene00048-0033-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e06b/1017242/8dc09c0be276/jmedgene00048-0033-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e06b/1017242/dd0a9e915afe/jmedgene00048-0033-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e06b/1017242/c06c1d6e6c73/jmedgene00048-0033-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e06b/1017242/8dc09c0be276/jmedgene00048-0033-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e06b/1017242/dd0a9e915afe/jmedgene00048-0033-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e06b/1017242/c06c1d6e6c73/jmedgene00048-0033-c.jpg

相似文献

1
The Nance-Horan syndrome.南斯-霍兰综合征。
J Med Genet. 1990 Oct;27(10):632-4. doi: 10.1136/jmg.27.10.632.
2
Nance-Horan syndrome: linkage analysis in a family from The Netherlands.南斯-霍兰综合征：来自荷兰一个家族的连锁分析。
Genomics. 1994 May 1;21(1):238-40. doi: 10.1006/geno.1994.1248.
3
Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis.南斯-霍兰综合征：一种涉及牙釉质蛋白基因缺失的邻接基因综合征？病例报告及分子分析。
Oral Dis. 1995 Mar;1(1):8-11. doi: 10.1111/j.1601-0825.1995.tb00150.x.
4
Exclusion of RAI2 as the causative gene for Nance-Horan syndrome.
Hum Genet. 1999 May;104(5):410-1. doi: 10.1007/s004390050976.
5
Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome.一名患有南斯-霍兰综合征基因缺失的男孩出现严重视力损害和视网膜改变。
Bull Soc Belge Ophtalmol. 2007(305):49-53.
6
A family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies.一个患有X染色体隐性先天性白内障、小眼症、特殊耳部形态和牙齿异常的家族。
J Pediatr Ophthalmol Strabismus. 1979 May-Jun;16(3):166-71. doi: 10.3928/0191-3913-19790501-08.
7
Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.女性因X;1平衡易位破坏NHS基因所致的南斯-霍兰综合征：家族病例报告及文献复习
Ophthalmic Genet. 2018 Jan-Feb;39(1):56-62. doi: 10.1080/13816810.2017.1363245. Epub 2017 Sep 18.
8
Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.南斯-霍兰综合征中的智力迟钝：四个家庭的临床和神经心理学评估
Am J Med Genet. 1997 Aug 22;71(3):305-14. doi: 10.1002/(sici)1096-8628(19970822)71:3<305::aid-ajmg11>3.0.co;2-o.
9
Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome.将南斯-霍兰综合征定位于X染色体短臂远端。
Hum Genet. 1990 Nov;86(1):54-8. doi: 10.1007/BF00205172.
10
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.南斯-霍兰综合征：通过连锁分析定位在Xp21.1-Xp22.3区域内。
Am J Hum Genet. 1990 Jul;47(1):13-9.

引用本文的文献

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Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.瑞士队列中先天性白内障的遗传图谱：解决南斯-霍兰综合征的诊断疏漏
Biomedicines. 2025 Aug 2;13(8):1883. doi: 10.3390/biomedicines13081883.
2
The NHSL1-A complex interacts with the Arp2/3 complex and controls cell migration efficiency and chemotaxis.NHSL1-A复合物与Arp2/3复合物相互作用，并控制细胞迁移效率和趋化性。
bioRxiv. 2025 Mar 13:2025.03.13.643034. doi: 10.1101/2025.03.13.643034.
3
Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

本文引用的文献

1
The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females.南斯-霍兰综合征：一种罕见的X连锁眼牙性状，在杂合子女性中有所表现。
Clin Genet. 1984 Jul;26(1):30-5. doi: 10.1111/j.1399-0004.1984.tb00783.x.
2
X-chromosomal-linked sutural cataracts.X染色体连锁的缝性白内障
Am J Ophthalmol. 1969 Nov;68(5):867-72. doi: 10.1016/0002-9394(69)94582-6.
3
X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome.X连锁性缺损性小眼畸形及其他先天性异常。一种类似伦兹畸形发生综合征的病症。
一种新型变异的男性和女性携带者中Nance-Horan综合征的基因型-表型相关性
Genes (Basel). 2025 Jan 16;16(1):91. doi: 10.3390/genes16010091.
4
Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.纳尔逊-霍兰综合征：三新家族的牙齿、临床和分子特征的描述。
BMC Oral Health. 2023 May 23;23(1):314. doi: 10.1186/s12903-023-03029-4.
5
Genetic Variants in Protein Tyrosine Phosphatase Non-Receptor Type 23 Are Responsible for Mesiodens Formation.蛋白酪氨酸磷酸酶非受体型23中的基因变异是正中多生牙形成的原因。
Biology (Basel). 2023 Mar 1;12(3):393. doi: 10.3390/biology12030393.
6
Genetic associations with immune-mediated outcomes after allogeneic hematopoietic cell transplantation.异基因造血细胞移植后免疫介导结局的遗传相关性。
Blood Adv. 2022 Apr 26;6(8):2608-2617. doi: 10.1182/bloodadvances.2021005620.
7
Oral Manifestations of Nance-Horan Syndrome: A Report of a Rare Case.南斯-霍兰综合征的口腔表现：1例罕见病例报告
Contemp Clin Dent. 2019 Jan-Mar;10(1):174-177. doi: 10.4103/ccd.ccd_490_18.
8
Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?先天性膈疝是否为 Nance-Horan 综合征的一部分？
Eur J Hum Genet. 2018 Mar;26(3):359-366. doi: 10.1038/s41431-017-0032-z. Epub 2018 Jan 22.
9
Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.中国汉族人群散发性先天性白内障的基因突变分布
Mol Vis. 2016 Jun 8;22:589-98. eCollection 2016.
10
Dishevelled binds the Discs large 'Hook' domain to activate GukHolder-dependent spindle positioning in Drosophila.无序蛋白结合“大圆盘”蛋白的“钩”结构域，以激活果蝇中依赖GukHolder的纺锤体定位。
PLoS One. 2014 Dec 2;9(12):e114235. doi: 10.1371/journal.pone.0114235. eCollection 2014.
Am J Ophthalmol. 1971 May;71(5):1128-33. doi: 10.1016/0002-9394(71)90588-5.
4
Congenital X-linked cataract, dental anomalies and brachymetacarpalia.先天性X连锁白内障、牙齿异常和掌骨短小
Birth Defects Orig Artic Ser. 1974;10(4):285-91.
5
A family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies.一个患有X染色体隐性先天性白内障、小眼症、特殊耳部形态和牙齿异常的家族。
J Pediatr Ophthalmol Strabismus. 1979 May-Jun;16(3):166-71. doi: 10.3928/0191-3913-19790501-08.