Oculodentodigital dysplasia.

作者信息

Fára M, Horák I, Hrivnáková J, Kapras J, Nová M, Stloukalová M

出版信息

Acta Chir Plast. 1977;19(2):110-22.

PMID:74156

Abstract

摘要

相似文献

Oculodentodigital dysplasia.

Acta Chir Plast. 1977;19(2):110-22.

Clinical and genetic variability of oculodentodigital dysplasia.

Clin Genet. 2006 Jul;70(1):71-2. doi: 10.1111/j.1399-0004.2006.00631.x.

Central nervous system abnormalities in oculodentodigital dysplasia.

Genet Couns. 1996;7(3):233-5.

Oculodentodigital dysplasia. A case report.

Minerva Stomatol. 2005 Jul-Aug;54(7-8):453-9.

Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia.

Am J Med Genet A. 2005 Nov 15;139(1):48-9. doi: 10.1002/ajmg.a.30925.

Polydactyly, conical teeth, nail dysplasia, and short limbs: a new autosomal dominant malformation syndrome.

Birth Defects Orig Artic Ser. 1979;15(5B):253-63.

Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?

Am J Med Genet. 1991 Dec 15;41(4):517-20. doi: 10.1002/ajmg.1320410428.

[Oculo-dento-digital syndrome. (Oculo-dento-digital dysplasia)].

Pediatrie. 1976 Sep;31(6):593-601.

Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family.

J Child Neurol. 2008 Aug;23(8):901-5. doi: 10.1177/0883073808317730.

[Unusual case of ocular and digital changes classifiable as oculodentodigital dysplasia].

Minerva Pediatr. 1976 Nov 10;28(35):2155-60.

引用本文的文献

The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.

Hum Mol Genet. 2008 Feb 15;17(4):539-54. doi: 10.1093/hmg/ddm329. Epub 2007 Nov 13.

A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

J Med Genet. 2006 Jul;43(7):e37. doi: 10.1136/jmg.2005.037655.

Craniotubular bone disorders.

Pediatr Radiol. 1994;24(6):392-406. doi: 10.1007/BF02011904.

Genetics of microphthalmos.

Int Ophthalmol. 1981 Aug;4(1-2):45-65. doi: 10.1007/BF00139580.

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