A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.

Christina Y Hung; Barbara Volkmar; James D Baker; Johann Bauer; Emanuela Gussoni; Stefan Hainzl; Alfred Klausegger; Jose Lorenzo; Ivana Mihalek; Olaf Rittinger; Mustafa Tekin; Julia E Dallman; Olaf A. Bodamer

doi:10.1371/journal.pone.0189324

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.

Christina Y Hung, Barbara Volkmar, James D Baker, Johann Bauer (Co-author), Emanuela Gussoni, Stefan Hainzl (Co-author), Alfred Klausegger (Co-author), Jose Lorenzo, Ivana Mihalek, Olaf Rittinger, Mustafa Tekin, Julia E Dallman, Olaf A. Bodamer^* (Last author)

^*Corresponding author for this work

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

7 Citations (Web of Science)

Original language	English
Pages (from-to)	e0189324
Journal	PLOS ONE
Volume	12
Issue number	12
DOIs	https://doi.org/10.1371/journal.pone.0189324
Publication status	Published - 2017

Keywords

PRIMORDIAL DWARFISM
GENE PRIORITIZATION
OUTER KINETOCHORE
PLATFORM
COMPLEX
DNA
ARCHITECTURE
INTEGRITY
PATHWAYS
DISEASE

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10.1371/journal.pone.0189324

Cite this

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title = "A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.",

keywords = "PRIMORDIAL DWARFISM, GENE PRIORITIZATION, OUTER KINETOCHORE, PLATFORM, COMPLEX, DNA, ARCHITECTURE, INTEGRITY, PATHWAYS, DISEASE",

author = "Hung, {Christina Y} and Barbara Volkmar and Baker, {James D} and Johann Bauer and Emanuela Gussoni and Stefan Hainzl and Alfred Klausegger and Jose Lorenzo and Ivana Mihalek and Olaf Rittinger and Mustafa Tekin and Dallman, {Julia E} and Bodamer, {Olaf A.}",

note = "Volkmar, Rittinger: Paracelsus Med Univ Salzburg, Dept Pediat, Salzburg, Austria; Bauer, Hainzl, Klausegger: Paracelsus Med Univ Salzburg, Dept Dermatol, Univ Hosp, EB House Austria, Salzburg, Austria; ",

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T1 - A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.

AU - Hung, Christina Y

AU - Volkmar, Barbara

AU - Baker, James D

AU - Bauer, Johann

AU - Gussoni, Emanuela

AU - Hainzl, Stefan

AU - Klausegger, Alfred

AU - Lorenzo, Jose

AU - Mihalek, Ivana

AU - Rittinger, Olaf

AU - Tekin, Mustafa

AU - Dallman, Julia E

AU - Bodamer, Olaf A.

N1 - Volkmar, Rittinger: Paracelsus Med Univ Salzburg, Dept Pediat, Salzburg, Austria; Bauer, Hainzl, Klausegger: Paracelsus Med Univ Salzburg, Dept Dermatol, Univ Hosp, EB House Austria, Salzburg, Austria;

PY - 2017

Y1 - 2017

KW - PRIMORDIAL DWARFISM

KW - GENE PRIORITIZATION

KW - OUTER KINETOCHORE

KW - PLATFORM

KW - COMPLEX

KW - DNA

KW - ARCHITECTURE

KW - INTEGRITY

KW - PATHWAYS

KW - DISEASE

U2 - 10.1371/journal.pone.0189324

DO - 10.1371/journal.pone.0189324

M3 - Original Article

C2 - 29228025

SN - 1932-6203

VL - 12

SP - e0189324

JO - PLOS ONE

JF - PLOS ONE

IS - 12

ER -