尺骨-乳腺综合征：临床表现、遗传基础、诊断与治疗 - Suppr

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Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment.

作者信息

Loyal Jameson, Laub Donald R

机构信息

University of Vermont College of Medicine.

University of Vermont College of Medicine ; Fletcher Allen Health Care, Burlington, Vt.

出版信息

Eplasty. 2014 Sep 27;14:ic35. eCollection 2014.

PMID:25328580

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4183216/

Abstract

摘要

相似文献

Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment.

Eplasty. 2014 Sep 27;14:ic35. eCollection 2014.

Ulnar mammary syndrome.

J Hand Surg Am. 2014 Apr;39(4):803-5. doi: 10.1016/j.jhsa.2014.01.024.

Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum.

Am J Med Genet A. 2014 May;164A(5):1304-9. doi: 10.1002/ajmg.a.36447. Epub 2014 Mar 24.

A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome.

Eur J Med Genet. 2020 Jan;63(1):103615. doi: 10.1016/j.ejmg.2019.01.005. Epub 2019 Jan 14.

Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome.

Am J Med Genet. 1992 Dec 1;44(6):807-12. doi: 10.1002/ajmg.1320440618.

Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome.

Structure. 2002 Mar;10(3):343-56. doi: 10.1016/s0969-2126(02)00722-0.

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.

Nat Genet. 1997 Jul;16(3):311-5. doi: 10.1038/ng0797-311.

Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome.

Development. 2003 May;130(10):2263-73. doi: 10.1242/dev.00431.

Anteriorly positioned ulnar nerve at the elbow: a rare anatomical event: case report.

J Hand Surg Am. 2015 May;40(5):984-6. doi: 10.1016/j.jhsa.2015.02.006. Epub 2015 Mar 24.

Tbx3, the ulnar-mammary syndrome gene, and Tbx2 interact in mammary gland development through a p19Arf/p53-independent pathway.

Dev Dyn. 2005 Dec;234(4):922-33. doi: 10.1002/dvdy.20575.

引用本文的文献

Hierarchical deployment of Tbx3 dictates the identity of hypothalamic KNDy neurons to control puberty onset.

Sci Adv. 2022 Nov 18;8(46):eabq2987. doi: 10.1126/sciadv.abq2987. Epub 2022 Nov 16.

本文引用的文献

Ulnar mammary syndrome.

J Hand Surg Am. 2014 Apr;39(4):803-5. doi: 10.1016/j.jhsa.2014.01.024.

The face of Ulnar Mammary syndrome?

Eur J Med Genet. 2011 May-Jun;54(3):301-5. doi: 10.1016/j.ejmg.2010.12.010. Epub 2011 Jan 1.

Ulnar Mammary syndrome and TBX3: expanding the phenotype.

Am J Med Genet A. 2009 Dec;149A(12):2809-12. doi: 10.1002/ajmg.a.33096.

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.

Eur J Hum Genet. 2006 Dec;14(12):1274-9. doi: 10.1038/sj.ejhg.5201696. Epub 2006 Aug 9.

Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family.

Ann Genet. 2002 Oct-Dec;45(4):213-7. doi: 10.1016/s0003-3995(02)01144-9.

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.

Nat Genet. 1997 Jul;16(3):311-5. doi: 10.1038/ng0797-311.

Ulnar-mammary syndrome.

J Med Genet. 1987 Dec;24(12):778-81. doi: 10.1136/jmg.24.12.778.

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Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment.

作者信息

Loyal Jameson, Laub Donald R

机构信息

University of Vermont College of Medicine.

University of Vermont College of Medicine ; Fletcher Allen Health Care, Burlington, Vt.

出版信息

Eplasty. 2014 Sep 27;14:ic35. eCollection 2014.

PMID:25328580

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4183216/

Abstract

摘要

相似文献

Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment.

Eplasty. 2014 Sep 27;14:ic35. eCollection 2014.

Ulnar mammary syndrome.

J Hand Surg Am. 2014 Apr;39(4):803-5. doi: 10.1016/j.jhsa.2014.01.024.

Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum.

Am J Med Genet A. 2014 May;164A(5):1304-9. doi: 10.1002/ajmg.a.36447. Epub 2014 Mar 24.

A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome.

Eur J Med Genet. 2020 Jan;63(1):103615. doi: 10.1016/j.ejmg.2019.01.005. Epub 2019 Jan 14.

Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome.

Am J Med Genet. 1992 Dec 1;44(6):807-12. doi: 10.1002/ajmg.1320440618.

Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome.

Structure. 2002 Mar;10(3):343-56. doi: 10.1016/s0969-2126(02)00722-0.

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.

Nat Genet. 1997 Jul;16(3):311-5. doi: 10.1038/ng0797-311.

Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome.

Development. 2003 May;130(10):2263-73. doi: 10.1242/dev.00431.

Anteriorly positioned ulnar nerve at the elbow: a rare anatomical event: case report.

J Hand Surg Am. 2015 May;40(5):984-6. doi: 10.1016/j.jhsa.2015.02.006. Epub 2015 Mar 24.

Tbx3, the ulnar-mammary syndrome gene, and Tbx2 interact in mammary gland development through a p19Arf/p53-independent pathway.

Dev Dyn. 2005 Dec;234(4):922-33. doi: 10.1002/dvdy.20575.

引用本文的文献

Hierarchical deployment of Tbx3 dictates the identity of hypothalamic KNDy neurons to control puberty onset.

Sci Adv. 2022 Nov 18;8(46):eabq2987. doi: 10.1126/sciadv.abq2987. Epub 2022 Nov 16.

本文引用的文献

Ulnar mammary syndrome.

J Hand Surg Am. 2014 Apr;39(4):803-5. doi: 10.1016/j.jhsa.2014.01.024.

The face of Ulnar Mammary syndrome?

Eur J Med Genet. 2011 May-Jun;54(3):301-5. doi: 10.1016/j.ejmg.2010.12.010. Epub 2011 Jan 1.

Ulnar Mammary syndrome and TBX3: expanding the phenotype.

Am J Med Genet A. 2009 Dec;149A(12):2809-12. doi: 10.1002/ajmg.a.33096.

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.

Eur J Hum Genet. 2006 Dec;14(12):1274-9. doi: 10.1038/sj.ejhg.5201696. Epub 2006 Aug 9.

Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family.

Ann Genet. 2002 Oct-Dec;45(4):213-7. doi: 10.1016/s0003-3995(02)01144-9.

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.

Nat Genet. 1997 Jul;16(3):311-5. doi: 10.1038/ng0797-311.

Ulnar-mammary syndrome.

J Med Genet. 1987 Dec;24(12):778-81. doi: 10.1136/jmg.24.12.778.