Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

A. T. G. Chiu; S. L. C. Pei; C. C. Y. Mak; G. K. C. Leung; M. H. C. Yu; S. L. Lee; M. Vreeburg; R. Pfundt; I. van der Burgt; T. Kleefstra; T. M. -T. Frederic; S. Nambot; L. Faivre; A. -L. Bruel; M. Rossi; B. Isidor; S. Kury; B. Cogne; T. Besnard; M. Willems; M. R. F. Reijnders; B. H. Y. Chung

doi:10.1111/cge.13196

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

A. T. G. Chiu, S. L. C. Pei, C. C. Y. Mak, G. K. C. Leung, M. H. C. Yu, S. L. Lee, M. Vreeburg, R. Pfundt, I. van der Burgt, T. Kleefstra, T. M. -T. Frederic, S. Nambot, L. Faivre, A. -L. Bruel, M. Rossi, B. Isidor, S. Kury, B. Cogne, T. Besnard, M. WillemsM. R. F. Reijnders^*, B. H. Y. Chung^*

^*Corresponding author for this work

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

16 Citations (Web of Science)

Original language	English
Pages (from-to)	880-890
Number of pages	11
Journal	Clinical Genetics
Volume	93
Issue number	4
DOIs	https://doi.org/10.1111/cge.13196
Publication status	Published - 1 Apr 2018

Keywords

CSNK2A1
developmental delay
Okur-Chung syndrome
whole exome sequencing
PROTEIN-KINASE CK2
DE-NOVO MUTATIONS
INTELLECTUAL DISABILITY
DYSMORPHIC FEATURES
CATALYTIC-SUBUNIT
PROLIFERATION
ABNORMALITIES
DISORDERS
NETWORK

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10.1111/cge.13196

Cite this

Chiu, A. T. G., Pei, S. L. C., Mak, C. C. Y., Leung, G. K. C., Yu, M. H. C., Lee, S. L., Vreeburg, M., Pfundt, R., van der Burgt, I., Kleefstra, T., Frederic, T. M. -T., Nambot, S., Faivre, L., Bruel, A. -L., Rossi, M., Isidor, B., Kury, S., Cogne, B., Besnard, T., ... Chung, B. H. Y. (2018). Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Clinical Genetics, 93(4), 880-890. https://doi.org/10.1111/cge.13196

Chiu, A. T. G. ; Pei, S. L. C. ; Mak, C. C. Y. ; Leung, G. K. C. ; Yu, M. H. C. ; Lee, S. L. ; Vreeburg, M. ; Pfundt, R. ; van der Burgt, I. ; Kleefstra, T. ; Frederic, T. M. -T. ; Nambot, S. ; Faivre, L. ; Bruel, A. -L. ; Rossi, M. ; Isidor, B. ; Kury, S. ; Cogne, B. ; Besnard, T. ; Willems, M. ; Reijnders, M. R. F. ; Chung, B. H. Y. / Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. In: Clinical Genetics. 2018 ; Vol. 93, No. 4. pp. 880-890.

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title = "Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion",

keywords = "CSNK2A1, developmental delay, Okur-Chung syndrome, whole exome sequencing, PROTEIN-KINASE CK2, DE-NOVO MUTATIONS, INTELLECTUAL DISABILITY, DYSMORPHIC FEATURES, CATALYTIC-SUBUNIT, PROLIFERATION, ABNORMALITIES, DISORDERS, NETWORK",

author = "Chiu, {A. T. G.} and Pei, {S. L. C.} and Mak, {C. C. Y.} and Leung, {G. K. C.} and Yu, {M. H. C.} and Lee, {S. L.} and M. Vreeburg and R. Pfundt and {van der Burgt}, I. and T. Kleefstra and Frederic, {T. M. -T.} and S. Nambot and L. Faivre and Bruel, {A. -L.} and M. Rossi and B. Isidor and S. Kury and B. Cogne and T. Besnard and M. Willems and Reijnders, {M. R. F.} and Chung, {B. H. Y.}",

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doi = "10.1111/cge.13196",

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Chiu, ATG, Pei, SLC, Mak, CCY, Leung, GKC, Yu, MHC, Lee, SL, Vreeburg, M, Pfundt, R, van der Burgt, I, Kleefstra, T, Frederic, TM-T, Nambot, S, Faivre, L, Bruel, A-L, Rossi, M, Isidor, B, Kury, S, Cogne, B, Besnard, T, Willems, M, Reijnders, MRF & Chung, BHY 2018, 'Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion', Clinical Genetics, vol. 93, no. 4, pp. 880-890. https://doi.org/10.1111/cge.13196

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. / Chiu, A. T. G.; Pei, S. L. C.; Mak, C. C. Y.; Leung, G. K. C.; Yu, M. H. C.; Lee, S. L.; Vreeburg, M.; Pfundt, R.; van der Burgt, I.; Kleefstra, T.; Frederic, T. M. -T.; Nambot, S.; Faivre, L.; Bruel, A. -L.; Rossi, M.; Isidor, B.; Kury, S.; Cogne, B.; Besnard, T.; Willems, M.; Reijnders, M. R. F.; Chung, B. H. Y.

In: Clinical Genetics, Vol. 93, No. 4, 01.04.2018, p. 880-890.

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

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T1 - Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

AU - Chiu, A. T. G.

AU - Pei, S. L. C.

AU - Mak, C. C. Y.

AU - Leung, G. K. C.

AU - Yu, M. H. C.

AU - Lee, S. L.

AU - Vreeburg, M.

AU - Pfundt, R.

AU - van der Burgt, I.

AU - Kleefstra, T.

AU - Frederic, T. M. -T.

AU - Nambot, S.

AU - Faivre, L.

AU - Bruel, A. -L.

AU - Rossi, M.

AU - Isidor, B.

AU - Kury, S.

AU - Cogne, B.

AU - Besnard, T.

AU - Willems, M.

AU - Reijnders, M. R. F.

AU - Chung, B. H. Y.

PY - 2018/4/1

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KW - CSNK2A1

KW - developmental delay

KW - Okur-Chung syndrome

KW - whole exome sequencing

KW - PROTEIN-KINASE CK2

KW - DE-NOVO MUTATIONS

KW - INTELLECTUAL DISABILITY

KW - DYSMORPHIC FEATURES

KW - CATALYTIC-SUBUNIT

KW - PROLIFERATION

KW - ABNORMALITIES

KW - DISORDERS

KW - NETWORK

U2 - 10.1111/cge.13196

DO - 10.1111/cge.13196

M3 - Article

C2 - 29240241

VL - 93

SP - 880

EP - 890

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 4

ER -