成纤维细胞生长因子受体2突变导致安特利-比克斯勒综合征的进一步证据。 - Suppr

Suppr

超能文献

Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome.

作者信息

Tsai F J, Wu J Y, Yang C F, Tsai C H

出版信息

Acta Paediatr. 2001 May;90(5):595-7. doi: 10.1111/j.1651-2227.2001.tb00811.x.

DOI:10.1111/j.1651-2227.2001.tb00811.x

PMID:11430730

Abstract

摘要

相似文献

Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome.

Acta Paediatr. 2001 May;90(5):595-7. doi: 10.1111/j.1651-2227.2001.tb00811.x.

Not Antley-Bixler syndrome.

Am J Med Genet. 1999 Mar 5;83(1):65-8.

Patient described by Chun et al. may not present Antley-Bixler syndrome.

Am J Med Genet. 1999 Mar 5;83(1):64.

[Antley-Bixler syndrome].

Ryoikibetsu Shokogun Shirizu. 2000(30 Pt 5):133-5.

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

J Med Genet. 2000 Jan;37(1):26-32. doi: 10.1136/jmg.37.1.26.

FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.

Am J Med Genet. 1998 May 18;77(3):219-24. doi: 10.1002/(sici)1096-8628(19980518)77:3<219::aid-ajmg6>3.0.co;2-k.

Lumpers, splitters, and FGFRs.

Am J Med Genet. 1996 Jun 14;63(3):501-2. doi: 10.1002/ajmg.1320630302.

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.

Am J Med Genet. 1999 Jul 16;85(2):160-70. doi: 10.1002/(sici)1096-8628(19990716)85:2<160::aid-ajmg11>3.0.co;2-r.

Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).

J Med Genet. 2004 Aug;41(8):e108. doi: 10.1136/jmg.2004.018507.

Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.

Mol Genet Metab. 1998 May;64(1):76-9. doi: 10.1006/mgme.1998.2694.

引用本文的文献

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype.

Front Endocrinol (Lausanne). 2023 Aug 11;14:1226387. doi: 10.3389/fendo.2023.1226387. eCollection 2023.

P450 oxidoreductase deficiency and Antley-Bixler syndrome.

Rev Endocr Metab Disord. 2007 Dec;8(4):301-7. doi: 10.1007/s11154-007-9056-y.

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

相似文献

Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome.

Acta Paediatr. 2001 May;90(5):595-7. doi: 10.1111/j.1651-2227.2001.tb00811.x.

Not Antley-Bixler syndrome.

Am J Med Genet. 1999 Mar 5;83(1):65-8.

Patient described by Chun et al. may not present Antley-Bixler syndrome.

Am J Med Genet. 1999 Mar 5;83(1):64.

[Antley-Bixler syndrome].

Ryoikibetsu Shokogun Shirizu. 2000(30 Pt 5):133-5.

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

J Med Genet. 2000 Jan;37(1):26-32. doi: 10.1136/jmg.37.1.26.

FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.

Am J Med Genet. 1998 May 18;77(3):219-24. doi: 10.1002/(sici)1096-8628(19980518)77:3<219::aid-ajmg6>3.0.co;2-k.

Lumpers, splitters, and FGFRs.

Am J Med Genet. 1996 Jun 14;63(3):501-2. doi: 10.1002/ajmg.1320630302.

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.

Am J Med Genet. 1999 Jul 16;85(2):160-70. doi: 10.1002/(sici)1096-8628(19990716)85:2<160::aid-ajmg11>3.0.co;2-r.

Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).

J Med Genet. 2004 Aug;41(8):e108. doi: 10.1136/jmg.2004.018507.

Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.

Mol Genet Metab. 1998 May;64(1):76-9. doi: 10.1006/mgme.1998.2694.

引用本文的文献

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype.

Front Endocrinol (Lausanne). 2023 Aug 11;14:1226387. doi: 10.3389/fendo.2023.1226387. eCollection 2023.

P450 oxidoreductase deficiency and Antley-Bixler syndrome.

Rev Endocr Metab Disord. 2007 Dec;8(4):301-7. doi: 10.1007/s11154-007-9056-y.