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Genomic Sequencing Highlights the Diverse Molecular Causes of Perrault Syndrome: a Peroxisomal Disorder (Pex6), Metabolic Disorders (Clpp, Ggps1), and Mtdna Maintenance/Translation Disorders (Lars2, Tfam)

AuthID
P-00S-54J

Author(s)

Tucker, EJ

Rius, R

Jaillard, S

Bell, K

Lamont, PJ

Travessa, A

Dupont, J

Sampaio, L

Dulon, J

Vuillaumier Barrot, S

Whalen, S

[+3]·

Robevska, G

van den Bergen, J

Hanna, C

Simpson, A

Ayers, K

Thorburn, DR

Christodoulou, J

Touraine, P

Sinclair, AH

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Document Type

Article

Year published

2020

Published

in HUMAN GENETICS, ISSN: 0340-6717

Volume: 139, Issue: 10, Pages: 1325-1343 (19)

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Publication Identifiers

DOI: 10.1007/s00439-020-02176-w

Pubmed: 32399598

SCOPUS: 2-s2.0-85084646902

Wos: WOS:000532127000001

Source Identifiers

ISSN: 0340-6717

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Name Order	Name	Name Order	Name	Name Order	Name
1	Tucker, EJ;	2	Rius, R;	3	Jaillard, S;
4	Bell, K;	5	Lamont, PJ;	6	Travessa, A;
7	Dupont, J;	8	Sampaio, L;	9	Dulon, J;
10	Vuillaumier Barrot, S;	11	Whalen, S;	12	Isapof, A;
13	Stojkovic, T;	14	Quijano Roy, S;	15	Robevska, G;
16	van den Bergen, J;	17	Hanna, C;	18	Simpson, A;
19	Ayers, K;	20	Thorburn, DR;	21	Christodoulou, J;
22	Touraine, P;	23	Sinclair, AH;

Genomic Sequencing Highlights the Diverse Molecular Causes of Perrault Syndrome: a Peroxisomal Disorder (Pex6), Metabolic Disorders (Clpp, Ggps1), and Mtdna Maintenance/Translation Disorders (Lars2, Tfam)

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Genomic Sequencing Highlights the Diverse Molecular Causes of Perrault Syndrome: a Peroxisomal Disorder (Pex6), Metabolic Disorders (Clpp, Ggps1), and Mtdna Maintenance/Translation Disorders (Lars2, Tfam)

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