Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype

Erika Ignatius; Riina Puosi; Maarit Palomäki; Noora Forsbom; Max Pohjanpelto; Tiina Alitalo; Anna-Kaisa Anttonen; Kristiina Avela; Leena Haataja; Christopher J. Carroll; Tuula Lönnqvist; Pirjo Isohanni

doi:10.1016/j.ejpn.2021.12.012

Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype

Erika Ignatius, Riina Puosi, Maarit Palomäki, Noora Forsbom, Max Pohjanpelto, Tiina Alitalo, Anna-Kaisa Anttonen, Kristiina Avela, Leena Haataja, Christopher J. Carroll, Tuula Lönnqvist, Pirjo Isohanni

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

Original language	English
Journal	European Journal of Paediatric Neurology
Volume	37
Pages (from-to)	1-7
Number of pages	7
ISSN	1090-3798
DOIs	https://doi.org/10.1016/j.ejpn.2021.12.012
Publication status	Published - Mar 2022
MoE publication type	A1 Journal article-refereed

Fields of Science

EBF3
EBF3-NDD
HADDS
Ataxia
Phenotype
10q26
VARIANTS
DATABASE
ATAXIA
3112 Neurosciences
3124 Neurology and psychiatry
3123 Gynaecology and paediatrics

Access to Document

10.1016/j.ejpn.2021.12.012

PIIS1090379821002324Final published version, 792 KBLicence: CC BY

Cite this

Ignatius, E., Puosi, R., Palomäki, M., Forsbom, N., Pohjanpelto, M., Alitalo, T., Anttonen, A.-K., Avela, K., Haataja, L., Carroll, C. J., Lönnqvist, T., & Isohanni, P. (2022). Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype. European Journal of Paediatric Neurology, 37, 1-7. https://doi.org/10.1016/j.ejpn.2021.12.012

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title = "Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype",

keywords = "EBF3, EBF3-NDD, HADDS, Ataxia, Phenotype, 10q26, VARIANTS, DATABASE, ATAXIA, 3112 Neurosciences, 3124 Neurology and psychiatry, 3123 Gynaecology and paediatrics",

author = "Erika Ignatius and Riina Puosi and Maarit Palom{\"a}ki and Noora Forsbom and Max Pohjanpelto and Tiina Alitalo and Anna-Kaisa Anttonen and Kristiina Avela and Leena Haataja and Carroll, {Christopher J.} and Tuula L{\"o}nnqvist and Pirjo Isohanni",

year = "2022",

month = mar,

doi = "10.1016/j.ejpn.2021.12.012",

language = "English",

volume = "37",

pages = "1--7",

journal = "European Journal of Paediatric Neurology",

issn = "1090-3798",

publisher = "ELSEVIER SCI IRELAND LTD",

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Ignatius, E, Puosi, R, Palomäki, M, Forsbom, N, Pohjanpelto, M, Alitalo, T , Anttonen, A-K , Avela, K , Haataja, L, Carroll, CJ, Lönnqvist, T & Isohanni, P 2022, 'Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype', European Journal of Paediatric Neurology, vol. 37, pp. 1-7. https://doi.org/10.1016/j.ejpn.2021.12.012

TY - JOUR

T1 - Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype

AU - Ignatius, Erika

AU - Puosi, Riina

AU - Palomäki, Maarit

AU - Forsbom, Noora

AU - Pohjanpelto, Max

AU - Alitalo, Tiina

AU - Anttonen, Anna-Kaisa

AU - Avela, Kristiina

AU - Haataja, Leena

AU - Carroll, Christopher J.

AU - Lönnqvist, Tuula

AU - Isohanni, Pirjo

PY - 2022/3

Y1 - 2022/3

KW - EBF3

KW - EBF3-NDD

KW - HADDS

KW - Ataxia

KW - Phenotype

KW - 10q26

KW - VARIANTS

KW - DATABASE

KW - ATAXIA

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

KW - 3123 Gynaecology and paediatrics

U2 - 10.1016/j.ejpn.2021.12.012

DO - 10.1016/j.ejpn.2021.12.012

M3 - Article

SN - 1090-3798

VL - 37

SP - 1

EP - 7

JO - European Journal of Paediatric Neurology

JF - European Journal of Paediatric Neurology

ER -