Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report

Andrea Bieder; Elisabet Einarsdottir; Hans Matsson; Harriet E. Nilsson; Jesper Eisfeldt; Anca Dragomir; Martin Paucar; Tobias Granberg; Tie-Qiang Li; Anna Lindstrand; Juha Kere; Isabel Tapia-Paez

doi:10.1186/s12881-020-01020-2

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report

Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere, Isabel Tapia-Paez

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Artikelnummer	87
Tidskrift	BMC Medical Genetics
Volym	21
Nummer	1
Antal sidor	9
ISSN	1471-2350
DOI	https://doi.org/10.1186/s12881-020-01020-2
Status	Publicerad - 1 maj 2020
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3111 Biomedicinska vetenskaper
1184 Genetik, utvecklingsbiologi, fysiologi

Åtkomst av dokument

10.1186/s12881-020-01020-2

document-1Slutlig publicerad version, 3,63 MBLicens: CC BY

http://hdl.handle.net/10138/314624

Citera det här

Bieder, A., Einarsdottir, E., Matsson, H., Nilsson, H. E., Eisfeldt, J., Dragomir, A., Paucar, M., Granberg, T., Li, T.-Q., Lindstrand, A., Kere, J., & Tapia-Paez, I. (2020). Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report. BMC Medical Genetics, 21(1), Artikel 87. https://doi.org/10.1186/s12881-020-01020-2

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keywords = "Developmental dyslexia, Situs inversus, Primary ciliary dyskinesia, L-R asymmetry defects, Whole genome sequencing, SNVs, Brain imaging, DCDC2 MUTATIONS CAUSE, CANDIDATE GENES, NEUROBIOLOGY, HANDEDNESS, GENETICS, DYX1C1, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "Andrea Bieder and Elisabet Einarsdottir and Hans Matsson and Nilsson, {Harriet E.} and Jesper Eisfeldt and Anca Dragomir and Martin Paucar and Tobias Granberg and Tie-Qiang Li and Anna Lindstrand and Juha Kere and Isabel Tapia-Paez",

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T1 - Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia

T2 - a case report

AU - Bieder, Andrea

AU - Einarsdottir, Elisabet

AU - Matsson, Hans

AU - Nilsson, Harriet E.

AU - Eisfeldt, Jesper

AU - Dragomir, Anca

AU - Paucar, Martin

AU - Granberg, Tobias

AU - Li, Tie-Qiang

AU - Lindstrand, Anna

AU - Kere, Juha

AU - Tapia-Paez, Isabel

PY - 2020/5/1

Y1 - 2020/5/1

KW - Developmental dyslexia

KW - Situs inversus

KW - Primary ciliary dyskinesia

KW - L-R asymmetry defects

KW - Whole genome sequencing

KW - SNVs

KW - Brain imaging

KW - DCDC2 MUTATIONS CAUSE

KW - CANDIDATE GENES

KW - NEUROBIOLOGY

KW - HANDEDNESS

KW - GENETICS

KW - DYX1C1

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1186/s12881-020-01020-2

DO - 10.1186/s12881-020-01020-2

M3 - Article

SN - 1471-2350

VL - 21

JO - BMC Medical Genetics

JF - BMC Medical Genetics

IS - 1

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