New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

K. Fong; S. Akdeniz; H. Isi; M. Taskesen; J. A. Mcgrath; J. E. Lai-Cheong

doi:10.1111/j.1365-2230.2010.03976.x

New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

K. Fong
, S. Akdeniz
, H. Isi
, M. Taskesen
, J. A. Mcgrath
, J. E. Lai-Cheong

皮膚學科

研究成果: Article › 同行評審

13 引文斯高帕斯（Scopus）

摘要

Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene. The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy. In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition.

原文	English
頁（從 - 到）	412-415
頁數	4
期刊	Clinical and Experimental Dermatology
卷	36
發行號	4
DOIs	https://doi.org/10.1111/j.1365-2230.2010.03976.x
出版狀態	Published - 2011 6月

All Science Journal Classification (ASJC) codes

皮膚科

存取文件

10.1111/j.1365-2230.2010.03976.x

其它文件與鏈接

引用此

@article{a81a04faedf546ecbf230956d31df694,

title = "New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome",

abstract = "Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene. The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy. In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition.",

author = "K. Fong and S. Akdeniz and H. Isi and M. Taskesen and Mcgrath, \{J. A.\} and Lai-Cheong, \{J. E.\}",

year = "2011",

month = jun,

doi = "10.1111/j.1365-2230.2010.03976.x",

language = "English",

volume = "36",

pages = "412--415",

journal = "Clinical and Experimental Dermatology",

issn = "0307-6938",

publisher = "Oxford University Press",

number = "4",

}

TY - JOUR

T1 - New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

AU - Fong, K.

AU - Akdeniz, S.

AU - Isi, H.

AU - Taskesen, M.

AU - Mcgrath, J. A.

AU - Lai-Cheong, J. E.

PY - 2011/6

Y1 - 2011/6

N2 - Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene. The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy. In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition.

AB - Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene. The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy. In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition.

UR - https://www.scopus.com/pages/publications/79955945037

UR - https://www.scopus.com/pages/publications/79955945037#tab=citedBy

U2 - 10.1111/j.1365-2230.2010.03976.x

DO - 10.1111/j.1365-2230.2010.03976.x

M3 - Article

C2 - 21564178

AN - SCOPUS:79955945037

SN - 0307-6938

VL - 36

SP - 412

EP - 415

JO - Clinical and Experimental Dermatology

JF - Clinical and Experimental Dermatology

IS - 4

ER -

New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

摘要

All Science Journal Classification (ASJC) codes

存取文件

其它文件與鏈接

指紋

引用此