一个患有多发性静脉球瘤畸形的家族中的球管抑制素基因c.157_161del突变 - Suppr

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Glomulin gene c.157_161del mutation in a family with multiple glomuvenous malformations.

作者信息

Suárez-Magdalena Olaya, Monteagudo Benigno, Figueroa Olalla, Gómez-Pérez María Isabel

机构信息

Department of Dermatology, University Hospital Complex of Ferrol, Ferrol, Spain.

Department of Pathology, University Hospital Complex of Ferrol, Ferrol, Spain.

出版信息

Int J Dermatol. 2019 Feb;58(2):e43-e45. doi: 10.1111/ijd.14312. Epub 2018 Nov 21.

DOI:10.1111/ijd.14312

PMID:30460983

Abstract

摘要

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Glomulin gene c.157_161del mutation in a family with multiple glomuvenous malformations.

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Glomulin gene c.157_161del mutation in a family with multiple glomuvenous malformations.

作者信息

Suárez-Magdalena Olaya, Monteagudo Benigno, Figueroa Olalla, Gómez-Pérez María Isabel

机构信息

Department of Dermatology, University Hospital Complex of Ferrol, Ferrol, Spain.

Department of Pathology, University Hospital Complex of Ferrol, Ferrol, Spain.

出版信息

Int J Dermatol. 2019 Feb;58(2):e43-e45. doi: 10.1111/ijd.14312. Epub 2018 Nov 21.

DOI:10.1111/ijd.14312

PMID:30460983

Abstract

摘要

相似文献

Glomulin gene c.157_161del mutation in a family with multiple glomuvenous malformations.

Int J Dermatol. 2019 Feb;58(2):e43-e45. doi: 10.1111/ijd.14312. Epub 2018 Nov 21.

Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations.

Int J Dermatol. 2014 Nov;53(11):1362-4. doi: 10.1111/ijd.12588. Epub 2014 Jun 25.

Glomulin mutation and glomuvenous malformations: two case reports with the same mutation but different phenotypes.

Eur J Dermatol. 2018 Oct 1;28(5):716-718. doi: 10.1684/ejd.2018.3390.

A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations.

Exp Dermatol. 2011 Dec;20(12):1032-4. doi: 10.1111/j.1600-0625.2011.01387.x.

Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN).

Int J Dermatol. 2023 Feb;62(2):e63-e65. doi: 10.1111/ijd.16246. Epub 2022 May 4.

Congenital plaque-type glomuvenous malformations associated with fetal pleural effusion and ascites.

Pediatr Dermatol. 2011 Sep-Oct;28(5):528-31. doi: 10.1111/j.1525-1470.2010.01216.x. Epub 2010 Dec 7.

Loss of heterozygosity in a case of glomuvenous malformations.

J Dermatol. 2015 Jun;42(6):646-7. doi: 10.1111/1346-8138.12849. Epub 2015 Mar 21.

Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations.

Eur J Dermatol. 2020 Apr 1;30(2):179-181. doi: 10.1684/ejd.2020.3716.

Congenital plaque-type glomuvenous malformation associated with chylous ascites.

Pediatr Dermatol. 2010 Nov-Dec;27(6):673-5. doi: 10.1111/j.1525-1470.2010.01337.x.

Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.

Am J Med Genet A. 2012 Apr;158A(4):839-49. doi: 10.1002/ajmg.a.35229. Epub 2012 Mar 9.

引用本文的文献

Non-gastrointestinal stromal tumor, mesenchymal neoplasms of the gastrointestinal tract: a review of tumor genetics, pathology, and cross-sectional imaging findings.

Abdom Radiol (NY). 2024 May;49(5):1716-1733. doi: 10.1007/s00261-024-04329-1. Epub 2024 May 1.