眼-面-心-牙（OFCD）综合征 - Suppr

Suppr

超能文献

Oculo-facio-cardio-dental (OFCD) syndrome.

作者信息

Obwegeser H L, Gorlin R J

出版信息

Clin Dysmorphol. 1997 Jul;6(3):281-3. doi: 10.1097/00019605-199707000-00014.

DOI:10.1097/00019605-199707000-00014

PMID:9220201

Abstract

摘要

相似文献

Oculo-facio-cardio-dental (OFCD) syndrome.眼-面-心-牙（OFCD）综合征

Clin Dysmorphol. 1997 Jul;6(3):281-3. doi: 10.1097/00019605-199707000-00014.

Oculo-facio-cardio-dental (OFCD) syndrome.眼-面-心-牙（OFCD）综合征

J Orofac Orthop. 1998;59(3):178-85. doi: 10.1007/BF01317179.

Oculo-facio-cardio-dental (OFCD) syndrome.眼-面-心-牙（OFCD）综合征

Am J Med Genet. 1996 May 3;63(1):290-2. doi: 10.1002/(SICI)1096-8628(19960503)63:1<290::AID-AJMG47>3.0.CO;2-G.

Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance.眼-面-心-牙综合征：母亲和女儿的X染色体失活偏斜提示X连锁显性遗传。

Am J Med Genet A. 2003 Dec 15;123A(3):261-6. doi: 10.1002/ajmg.a.20444.

A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome.一个新的缺失突变，BCOR 基因中的 c.1296delT，与眼面心齿综合征有关。

Sci China Life Sci. 2019 Jan;62(1):119-125. doi: 10.1007/s11427-018-9374-2. Epub 2018 Sep 21.

Oculo-facio-cardio-dental syndrome: report of a rare case.眼-面-心-牙综合征：1例罕见病例报告。

Angle Orthod. 2006 Jan;76(1):184-6. doi: 10.1043/0003-3219(2006)076[0184:OSROAR]2.0.CO;2.

Oculo-facio-cardio-dental syndrome: two new cases.

J Oral Maxillofac Surg. 2001 Aug;59(8):921-5. doi: 10.1053/joms.2001.25220.

Dental management of a patient with oculo-facio-cardio-dental syndrome.眼-面-心-牙综合征患者的牙科管理

J Dent Child (Chic). 2008 Sep-Dec;75(3):306-8.

Oculo-facio-cardio-dental (OFCD) syndrome: a case report.眼面心牙（OFCD）综合征：病例报告。

J Med Case Rep. 2024 Jan 4;18(1):18. doi: 10.1186/s13256-023-04244-x.

Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients.

Am J Med Genet. 1999 Feb 19;82(5):429-35. doi: 10.1002/(sici)1096-8628(19990219)82:5<429::aid-ajmg13>3.0.co;2-s.

引用本文的文献

A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts.BCOR 基因中存在一种罕见的双等位基因镶嵌变体基因型，导致双眼眼前节发育不良和白内障。

Eur J Hum Genet. 2023 Jan;31(1):125-127. doi: 10.1038/s41431-022-01195-7. Epub 2022 Oct 20.

OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the Polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR.条件性突变多梳抑制复合物 1.1（PRC1.1）基因 BCOR 可揭示 OFCD 综合征和胚胎外缺陷。

Dev Biol. 2020 Dec 1;468(1-2):110-132. doi: 10.1016/j.ydbio.2020.06.013. Epub 2020 Jul 18.

Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl.一名女童同时患杜氏肌营养不良症和X连锁眼-面-心-牙综合征的分子特征分析

Am J Med Genet A. 2009 Jun;149A(6):1249-52. doi: 10.1002/ajmg.a.32863.

Oculo-facio-cardio-dental (OFCD) syndrome.眼-面-心-牙（OFCD）综合征

J Orofac Orthop. 1998;59(3):178-85. doi: 10.1007/BF01317179.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验