Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

ME Kuo; Arjan Theil; Anneke Kievit; MC Malicdan; WJ Introne; T Christian; Frans Verheijen; DEC Smith; MI Mendes; Lidia Odijk; Eric Meijden; M van Slegtenhorst; Martina Wilke; Wim Vermeulen; Anja Raams; C Groden; S Shimada; R Meyer-Schuman; YM Hou; WA Gahl; A Antonellis; GS Salomons; Grazia Verheijen - Mancini

doi:10.1016/j.ajhg.2019.01.006

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

ME Kuo
, Arjan Theil
, Anneke Kievit
, MC Malicdan
, WJ Introne
, T Christian
, Frans Verheijen
, DEC Smith
, MI Mendes
, Lidia Odijk
, Eric Meijden
, M van Slegtenhorst
, Martina Wilke
, Wim Vermeulen
, Anja Raams
, C Groden
, S Shimada
, R Meyer-Schuman
, YM Hou
, WA Gahl

A Antonellis, GS Salomons, Grazia Verheijen - Mancini

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

43 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	520-529
Number of pages	10
Journal	American Journal of Human Genetics
Volume	104
Issue number	3
DOIs	https://doi.org/10.1016/j.ajhg.2019.01.006
Publication status	Published - 2019

Research programs

EMC MGC-01-12-03

Access to Document

10.1016/j.ajhg.2019.01.006

http://hdl.handle.net/1765/116329

Cite this

Kuo, ME., Theil, A., Kievit, A., Malicdan, MC., Introne, WJ., Christian, T., Verheijen, F., Smith, DEC., Mendes, MI., Odijk, L., Meijden, E., van Slegtenhorst, M., Wilke, M., Vermeulen, W., Raams, A., Groden, C., Shimada, S., Meyer-Schuman, R., Hou, YM., ... Verheijen - Mancini, G. (2019). Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. American Journal of Human Genetics, 104(3), 520-529. https://doi.org/10.1016/j.ajhg.2019.01.006

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author = "ME Kuo and Arjan Theil and Anneke Kievit and MC Malicdan and WJ Introne and T Christian and Frans Verheijen and DEC Smith and MI Mendes and Lidia Odijk and Eric Meijden and \{van Slegtenhorst\}, M and Martina Wilke and Wim Vermeulen and Anja Raams and C Groden and S Shimada and R Meyer-Schuman and YM Hou and WA Gahl and A Antonellis and GS Salomons and \{Verheijen - Mancini\}, Grazia",

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Kuo, ME, Theil, A , Kievit, A, Malicdan, MC, Introne, WJ, Christian, T, Verheijen, F, Smith, DEC, Mendes, MI, Odijk, L, Meijden, E, van Slegtenhorst, M, Wilke, M , Vermeulen, W , Raams, A, Groden, C, Shimada, S, Meyer-Schuman, R, Hou, YM, Gahl, WA, Antonellis, A, Salomons, GS & Verheijen - Mancini, G 2019, 'Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails', American Journal of Human Genetics, vol. 104, no. 3, pp. 520-529. https://doi.org/10.1016/j.ajhg.2019.01.006

TY - JOUR

T1 - Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

AU - Kuo, ME

AU - Theil, Arjan

AU - Kievit, Anneke

AU - Malicdan, MC

AU - Introne, WJ

AU - Christian, T

AU - Verheijen, Frans

AU - Smith, DEC

AU - Mendes, MI

AU - Odijk, Lidia

AU - Meijden, Eric

AU - van Slegtenhorst, M

AU - Wilke, Martina

AU - Vermeulen, Wim

AU - Raams, Anja

AU - Groden, C

AU - Shimada, S

AU - Meyer-Schuman, R

AU - Hou, YM

AU - Gahl, WA

AU - Antonellis, A

AU - Salomons, GS

AU - Verheijen - Mancini, Grazia

PY - 2019

Y1 - 2019

U2 - 10.1016/j.ajhg.2019.01.006

DO - 10.1016/j.ajhg.2019.01.006

M3 - Article

C2 - 30824121

SN - 0002-9297

VL - 104

SP - 520

EP - 529

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 3

ER -