Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities

Journal:

American Journal of Human Genetics

Published:

2025-07-03

DOI:

10.1016/j.ajhg.2025.05.004

Affiliations:

12

Authors:

20

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Institutions	Authors	Share
Hôpital Necker-Enfants Malades, France	4.000000	0.20
IRCCS Meyer Children's Hospital, Italy	4.000000	0.20
MITOVASC, France	3.000000	0.15
Centre Hospitalier Universitaire d'Angers (CHU d'Angers), France	2.000000	0.10
Institut du Thorax (IdT), France	2.000000	0.10
Boston Children's Hospital (BCH), United States of America (USA)	2.000000	0.10
University of Angers, France	1.000000	0.05
IRCCS Istituto Giannina Gaslini, Italy	1.000000	0.05
University Hospital Nantes (CHU de Nantes), France	0.500000	0.03
Établissement de Santé pour Enfants et Adolescents de la Région Nantaise (ESEAN), France	0.500000	0.03

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