A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

Viivi Nevanlinna; Svetlana Konovalova; Berten Ceulemans; Mikko Muona; Anni Laari; Taru Hilander; Katarin Gorski; Leena Valanne; Anna-Kaisa Anttonen; Henna Tyynismaa; Carolina Courage; Anna-Elina Lehesjoki

doi:10.1016/j.ejmg.2019.103766

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

Viivi Nevanlinna, Svetlana Konovalova, Berten Ceulemans, Mikko Muona, Anni Laari, Taru Hilander, Katarin Gorski, Leena Valanne, Anna-Kaisa Anttonen, Henna Tyynismaa, Carolina Courage, Anna-Elina Lehesjoki

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

Original language	English
Article number	103766
Journal	European Journal of Medical Genetics
Volume	63
Issue number	3
Number of pages	7
ISSN	1769-7212
DOIs	https://doi.org/10.1016/j.ejmg.2019.103766
Publication status	Published - Mar 2020
MoE publication type	A1 Journal article-refereed

Fields of Science

Pontocerebellar hypoplasia type 6
RARS2
PEHO syndrome
Progressive cerebellar and cerebral atrophy
PROGRESSIVE ENCEPHALOPATHY
OPTIC ATROPHY
EDEMA
TBCD
3111 Biomedicine
1184 Genetics, developmental biology, physiology

Access to Document

10.1016/j.ejmg.2019.103766

A patient with pontocerebellar hypoplasia type 6 Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndromeAccepted author manuscript, 7.67 MBLicence: CC BY-NC-ND

Cite this

Nevanlinna, V., Konovalova, S., Ceulemans, B., Muona, M., Laari, A., Hilander, T., Gorski, K., Valanne, L., Anttonen, A.-K., Tyynismaa, H., Courage, C., & Lehesjoki, A.-E. (2020). A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome. European Journal of Medical Genetics, 63(3), Article 103766. https://doi.org/10.1016/j.ejmg.2019.103766

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title = "A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome",

keywords = "Pontocerebellar hypoplasia type 6, RARS2, PEHO syndrome, Progressive cerebellar and cerebral atrophy, PROGRESSIVE ENCEPHALOPATHY, OPTIC ATROPHY, EDEMA, TBCD, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "Viivi Nevanlinna and Svetlana Konovalova and Berten Ceulemans and Mikko Muona and Anni Laari and Taru Hilander and Katarin Gorski and Leena Valanne and Anna-Kaisa Anttonen and Henna Tyynismaa and Carolina Courage and Anna-Elina Lehesjoki",

year = "2020",

month = mar,

doi = "10.1016/j.ejmg.2019.103766",

language = "English",

volume = "63",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Scientific Publ. Co",

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Nevanlinna, V, Konovalova, S, Ceulemans, B, Muona, M, Laari, A, Hilander, T, Gorski, K , Valanne, L , Anttonen, A-K , Tyynismaa, H , Courage, C & Lehesjoki, A-E 2020, 'A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome', European Journal of Medical Genetics, vol. 63, no. 3, 103766. https://doi.org/10.1016/j.ejmg.2019.103766

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome. / Nevanlinna, Viivi; Konovalova, Svetlana; Ceulemans, Berten et al.
In: European Journal of Medical Genetics, Vol. 63, No. 3, 103766, 03.2020.

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

TY - JOUR

T1 - A patient with pontocerebellar hypoplasia type 6

T2 - Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

AU - Nevanlinna, Viivi

AU - Konovalova, Svetlana

AU - Ceulemans, Berten

AU - Muona, Mikko

AU - Laari, Anni

AU - Hilander, Taru

AU - Gorski, Katarin

AU - Valanne, Leena

AU - Anttonen, Anna-Kaisa

AU - Tyynismaa, Henna

AU - Courage, Carolina

AU - Lehesjoki, Anna-Elina

PY - 2020/3

Y1 - 2020/3

KW - Pontocerebellar hypoplasia type 6

KW - RARS2

KW - PEHO syndrome

KW - Progressive cerebellar and cerebral atrophy

KW - PROGRESSIVE ENCEPHALOPATHY

KW - OPTIC ATROPHY

KW - EDEMA

KW - TBCD

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1016/j.ejmg.2019.103766

DO - 10.1016/j.ejmg.2019.103766

M3 - Article

SN - 1769-7212

VL - 63

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 3

M1 - 103766

ER -