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, Emek 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 journalLetter

Original languageEnglish
Pages (from-to)210-212
Number of pages3
JournalJournal of Dermatological Science
Volume84
Issue number2
DOIs
Publication statusPublished - 2016 Nov 1

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology

Cite this

Hsu, Chao Kai ; Liu, Lu ; Can, Pelin K. ; Kocatürk, Emek ; McMillan, James R. ; Güngör, Şule ; Hürdoğan, Özge ; Sargan, Aytul ; Degirmentepe, Ece N. ; Lee, John Y.W. ; Simpson, Michael A. ; McGrath, John A. / Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. In: Journal of Dermatological Science. 2016 ; Vol. 84, No. 2. pp. 210-212.
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title = "Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1",
author = "Hsu, {Chao Kai} and Lu Liu and Can, {Pelin K.} and Emek Kocat{\"u}rk and McMillan, {James R.} and Şule 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 = "11",
day = "1",
doi = "10.1016/j.jdermsci.2016.08.011",
language = "English",
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pages = "210--212",
journal = "Journal of Dermatological Science",
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}

Hsu, CK, 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, vol. 84, no. 2, pp. 210-212. https://doi.org/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. / Hsu, Chao Kai; Liu, Lu; Can, Pelin K.; Kocatürk, Emek; McMillan, James R.; Güngör, Şule; Hürdoğan, Özge; Sargan, Aytul; Degirmentepe, Ece N.; Lee, John Y.W.; Simpson, Michael A.; McGrath, John A.

In: Journal of Dermatological Science, Vol. 84, No. 2, 01.11.2016, p. 210-212.

Research output: Contribution to journalLetter

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, Emek

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 - 2016/11/1

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U2 - 10.1016/j.jdermsci.2016.08.011

DO - 10.1016/j.jdermsci.2016.08.011

M3 - Letter

C2 - 27554337

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VL - 84

SP - 210

EP - 212

JO - Journal of Dermatological Science

JF - Journal of Dermatological Science

SN - 0923-1811

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ER -