Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1

Chao-Kai Hsu; Lu Liu; Pelin K. Can; Emen Kocatürk; James R. McMillan; Şule Güngör; Özge Hürdoğan; Aytul Sargan; Ece N. Degirmentepe; John Y.W. Lee; Michael A. Simpson; John A. McGrath

doi:10.1016/j.jdermsci.2016.08.011

Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1

Chao-Kai Hsu, Lu Liu, Pelin K. Can, Emen Kocatürk, James R. McMillan, Şule Güngör, Özge Hürdoğan, Aytul Sargan, Ece N. Degirmentepe, John Y.W. Lee, Michael A. Simpson, John A. McGrath

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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Original language	English
Journal	Journal of Dermatological Science
DOIs	https://doi.org/10.1016/j.jdermsci.2016.08.011
Publication status	E-pub ahead of print - 11 Aug 2016

Keywords

PKP1
Plakophilin-1
ectodermal dysplasia–skin fragility syndrome
splice site mutation

Access to Document

10.1016/j.jdermsci.2016.08.011

Ectodermal dysplasia–skin fragility_HSU_Online 11Aug2016_GREEN AAMAccepted author manuscript, 946 KBLicence: CC BY-NC-ND

Cite this

Hsu, C.-K., Liu, L., Can, P. K., Kocatürk, E., McMillan, J. R., Güngör, Ş., Hürdoğan, Ö., Sargan, A., Degirmentepe, E. N., Lee, J. Y. W., Simpson, M. A., & McGrath, J. A. (2016). Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. Journal of Dermatological Science. Advance online publication. https://doi.org/10.1016/j.jdermsci.2016.08.011

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title = "Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1",

keywords = "PKP1, Plakophilin-1, ectodermal dysplasia–skin fragility syndrome, splice site mutation",

author = "Chao-Kai Hsu and Lu Liu and Can, {Pelin K.} and Emen Kocat{\"u}rk and McMillan, {James R.} and {\c S}ule G{\"u}ng{\"o}r and {\"O}zge H{\"u}rdoğan and Aytul Sargan and Degirmentepe, {Ece N.} and Lee, {John Y.W.} and Simpson, {Michael A.} and McGrath, {John A.}",

year = "2016",

month = aug,

day = "11",

doi = "10.1016/j.jdermsci.2016.08.011",

language = "English",

journal = "Journal of Dermatological Science",

issn = "0923-1811",

publisher = "Elsevier Ireland Ltd",

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Hsu, C-K, Liu, L, Can, PK, Kocatürk, E, McMillan, JR, Güngör, Ş, Hürdoğan, Ö, Sargan, A, Degirmentepe, EN, Lee, JYW , Simpson, MA & McGrath, JA 2016, 'Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1', Journal of Dermatological Science. https://doi.org/10.1016/j.jdermsci.2016.08.011

TY - JOUR

T1 - Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1

AU - Hsu, Chao-Kai

AU - Liu, Lu

AU - Can, Pelin K.

AU - Kocatürk, Emen

AU - McMillan, James R.

AU - Güngör, Şule

AU - Hürdoğan, Özge

AU - Sargan, Aytul

AU - Degirmentepe, Ece N.

AU - Lee, John Y.W.

AU - Simpson, Michael A.

AU - McGrath, John A.

PY - 2016/8/11

Y1 - 2016/8/11

KW - PKP1

KW - Plakophilin-1

KW - ectodermal dysplasia–skin fragility syndrome

KW - splice site mutation

U2 - 10.1016/j.jdermsci.2016.08.011

DO - 10.1016/j.jdermsci.2016.08.011

M3 - Article

SN - 0923-1811

JO - Journal of Dermatological Science

JF - Journal of Dermatological Science

ER -