一名患有毛发鼻指综合征的日本患者的TRPS1基因中出现了一种新的碱基对缺失。 - Suppr

A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome.

作者信息

Saito Ryuichi, Yamaguchi Takashi, Ohmori Shun, Haruyama Sanehito, Sawada Yu, Yoshioka Manabu, Okada Etsuko, Nakamura Motonobu

机构信息

Department of Dermatology, University of Occupational and Environmental Health, Japan.

出版信息

Eur J Dermatol. 2018 Feb 1;28(1):107-108. doi: 10.1684/ejd.2018.3253.

DOI:10.1684/ejd.2018.3253

PMID:29521629

Abstract

摘要

相似文献

A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome.

Eur J Dermatol. 2018 Feb 1;28(1):107-108. doi: 10.1684/ejd.2018.3253.

A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I.

Int J Dermatol. 2014 Aug;53(8):1012-5. doi: 10.1111/j.1365-4632.2012.05694.x. Epub 2013 Apr 28.

Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation.

Minerva Pediatr. 2018 Dec;70(6):639-642. doi: 10.23736/S0026-4946.18.05011-9. Epub 2018 Apr 12.

TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.

Clin Dysmorphol. 2012 Apr;21(2):87-90. doi: 10.1097/MCD.0b013e32834e9248.

An intragenic duplication of leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.

Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6). doi: 10.1101/mcs.a004655. Print 2019 Dec.

Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I.

Gene. 2013 Jul 1;523(1):88-91. doi: 10.1016/j.gene.2013.03.035. Epub 2013 Mar 17.

Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells.

J Dermatol. 2013 May;40(5):396-8. doi: 10.1111/1346-8138.12111. Epub 2013 Mar 4.

Identification of a new mutation in TRPS1 gene leading to tricho-rhino-phalangeal syndrome I in a Chinese patient.

J Dermatol. 2013 Apr;40(4):277-8. doi: 10.1111/1346-8138.12064. Epub 2013 Jan 7.

A novel TRPS1 mutation in a family with tricho-rhino-phalangeal syndrome type 1.

J Dermatol. 2014 Jun;41(6):514-7. doi: 10.1111/1346-8138.12511.

[Tricho-rhino-phalangeal syndrome due to a novel frameshift variation of the TRPS1 gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Oct 10;36(10):993-995. doi: 10.3760/cma.j.issn.1003-9406.2019.10.010.

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A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome.

Eur J Dermatol. 2018 Feb 1;28(1):107-108. doi: 10.1684/ejd.2018.3253.

A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I.

Int J Dermatol. 2014 Aug;53(8):1012-5. doi: 10.1111/j.1365-4632.2012.05694.x. Epub 2013 Apr 28.

Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutation.

Minerva Pediatr. 2018 Dec;70(6):639-642. doi: 10.23736/S0026-4946.18.05011-9. Epub 2018 Apr 12.

TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.

Clin Dysmorphol. 2012 Apr;21(2):87-90. doi: 10.1097/MCD.0b013e32834e9248.

An intragenic duplication of leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.

Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6). doi: 10.1101/mcs.a004655. Print 2019 Dec.

Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I.

Gene. 2013 Jul 1;523(1):88-91. doi: 10.1016/j.gene.2013.03.035. Epub 2013 Mar 17.

Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells.

J Dermatol. 2013 May;40(5):396-8. doi: 10.1111/1346-8138.12111. Epub 2013 Mar 4.

Identification of a new mutation in TRPS1 gene leading to tricho-rhino-phalangeal syndrome I in a Chinese patient.

J Dermatol. 2013 Apr;40(4):277-8. doi: 10.1111/1346-8138.12064. Epub 2013 Jan 7.

A novel TRPS1 mutation in a family with tricho-rhino-phalangeal syndrome type 1.

J Dermatol. 2014 Jun;41(6):514-7. doi: 10.1111/1346-8138.12511.

[Tricho-rhino-phalangeal syndrome due to a novel frameshift variation of the TRPS1 gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Oct 10;36(10):993-995. doi: 10.3760/cma.j.issn.1003-9406.2019.10.010.

A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome.

作者信息

Saito Ryuichi, Yamaguchi Takashi, Ohmori Shun, Haruyama Sanehito, Sawada Yu, Yoshioka Manabu, Okada Etsuko, Nakamura Motonobu

机构信息

Department of Dermatology, University of Occupational and Environmental Health, Japan.

出版信息

Eur J Dermatol. 2018 Feb 1;28(1):107-108. doi: 10.1684/ejd.2018.3253.

DOI:10.1684/ejd.2018.3253

PMID:29521629

Abstract

摘要

A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome.

作者信息

机构信息

出版信息

相似文献

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A novel base pair deletion in the TRPS1 gene in a Japanese patient with trichorhinophalangeal syndrome.

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