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Lacrimo-auriculo-dento-digital syndrome with unilateral inner ear dysplasia and craniocervical osseous abnormalities: case report and review of literature.

作者信息

Moses J E

出版信息

Clin Neuroradiol. 2013 Sep;23(3):221-4. doi: 10.1007/s00062-012-0170-1. Epub 2012 Aug 24.

DOI:10.1007/s00062-012-0170-1
PMID:23010692
Abstract
摘要

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Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.泪耳齿指综合征:一个韩国家族的新突变及文献复习。
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本文引用的文献

1
Lacrimo-auriculo-dento-digital syndrome.泪腺-耳-齿-指综合征
J Indian Soc Pedod Prev Dent. 2011 Apr-Jun;29(2):168-70. doi: 10.4103/0970-4388.84693.
2
Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient.病例报告:一名年轻女性患者的泪腺-耳-齿-指(LADD)综合征表现
Eur Arch Paediatr Dent. 2009 Nov;10 Suppl 1:35-9. doi: 10.1007/BF03262698.
3
Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome.一个患有泪腺-耳-齿-指(LADD)综合征的家庭的口腔牙齿检查结果。
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Dec;106(6):e33-44. doi: 10.1016/j.tripleo.2008.07.019. Epub 2008 Sep 17.
4
Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway.泪腺-耳-牙-指综合征是由成纤维细胞生长因子10(FGF10)-FGF受体2信号通路活性降低引起的。
Mol Cell Biol. 2007 Oct;27(19):6903-12. doi: 10.1128/MCB.00544-07. Epub 2007 Aug 6.
5
Mutations in different components of FGF signaling in LADD syndrome.拉综合征(LADD syndrome)中FGF信号通路不同组分的突变
Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26.
6
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review.泪腺-耳-齿-指(LADD)综合征的特征:一家系病例报告及文献复习
Int J Pediatr Otorhinolaryngol. 2006 Jul;70(7):1307-14. doi: 10.1016/j.ijporl.2005.12.015. Epub 2006 Feb 7.
7
Cellular signaling by fibroblast growth factor receptors.成纤维细胞生长因子受体介导的细胞信号传导
Cytokine Growth Factor Rev. 2005 Apr;16(2):139-49. doi: 10.1016/j.cytogfr.2005.01.001. Epub 2005 Feb 1.
8
CT findings of head and neck anomalies in lacrimo-auriculo-dento-digital (LADD) syndrome.泪腺-耳-牙-指(LADD)综合征头颈部异常的CT表现。
Dentomaxillofac Radiol. 2005 Mar;34(2):102-5. doi: 10.1259/dmfr/65931528.
9
Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations.伴有唇腭裂及肾脏表现的泪腺-耳-齿-指综合征
Cleft Palate Craniofac J. 2004 Sep;41(5):501-6. doi: 10.1597/03-080.1.
10
Lacrimo-auriculo-dento-digital syndrome with QT prolongation.伴有QT间期延长的泪腺-耳-齿-指综合征
Acta Cardiol. 2003 Dec;58(6):567-70. doi: 10.2143/AC.58.6.2005324.