Further characterisation of

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Epilepsy Genetic Counseling Heredity Human Genetics

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
25 Oct 2023
Historique:
received: 09 02 2023
accepted: 30 09 2023
medline: 26 10 2023
pubmed: 26 10 2023
entrez: 25 10 2023
Statut: aheadofprint

Résumé

The Aristaless-related homeobox (

Identifiants

DOI: 10.1136/jmg-2023-109203 PMID: 37879892
pubmed: 37879892
pii: jmg-2023-109203
doi: 10.1136/jmg-2023-109203
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Mathilde Gras (M)

Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France mathilde.gras@aphp.fr.
ORCID: 0000-0002-2376-8026

Solveig Heide (S)

Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France.
Reference Center for Rare Diseases « Intellectual disabilities of rare causes » Déficiences Intellectuelles de Causes Rares, University Hospital Pitié Salpêtrière, Paris, France.
Doctoral College, Sorbonne University, Paris, France.
ORCID: 0000-0002-4673-9762

Boris Keren (B)

Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France.

Stéphanie Valence (S)

Unit of Pediatric Neurology, APHP Sorbonne Université, Armand-Trousseau Hospital, Paris, France.
Reference Center for Rare Diseases « Intellectual disabilites of rare causes » Déficiences Intellectuelles de Causes Rares, Armand-Trousseau Hospital, Paris, France.

Catherine Garel (C)

Unit of Pediatric Radiology, APHP Sorbonne Université, Armand-Trousseau Hospital, Paris, France.

Sandra Whalen (S)

Department of Clinical Genetics and Reference Center for Rare Diseases « Developmental disorders and syndromes », APHP Sorbonne Université, Armand-Trousseau Hospital, Paris, France.

Anna C Jansen (AC)

Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.
ORCID: 0000-0002-3835-2824

Kathelijn Keymolen (K)

Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZ Brussels), Vrije Universiteit Brussel (VUB), Brussels, Belgium.

Katrien Stouffs (K)

Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Universitair Ziekenhuis Brussel (UZ Brussels), Vrije Universiteit Brussel (VUB), Brussels, Belgium.
ORCID: 0000-0001-8164-5692

Mélanie Jennesson (M)

Pediatrics Unit, University Hospital of Reims, American Memorial Hospital, Reims, France.

Céline Poirsier (C)

UF génétique clinique, Pôle Femme-Parents-Enfants, CHU Reims, Reims, France.

Gaetan Lesca (G)

Department of Genetics, Referral Center for Developmental Anomalies and Malformative Syndromes, Centre-est HCL, Hospices Civils de Lyon, Lyon, France.
ORCID: 0000-0001-7691-9492

Christel Depienne (C)

Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.

Caroline Nava (C)

Brain Institute, Paris, France.

Agnès Rastetter (A)

Brain Institute, Paris, France.

Aurore Curie (A)

Reference Centre for Rare Diseases « Intellectual disabilities of rare causes », Civil Hospices of Lyon, Lyon, France.
University Lyon 1 Faculty of Medicine Lyon-Est, Lyon, France.

Laurence Cuisset (L)

APHP Centre Université Paris Cité, Service de Médecine Génomique des Maladies de Système et d'Organe, Cochin Hospital, Paris, France.

Vincent Des Portes (V)

Reference Centre for Rare Diseases « Intellectual disabilities of rare causes », Civil Hospices of Lyon, Lyon, France.
University Lyon 1 Faculty of Medicine Lyon-Est, Lyon, France.

Mathieu Milh (M)

Department of Neurology Pediatrics, AP-HM, Hôpital de la Timone, Marseille, France.

Perrine Charles (P)

Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France.
Reference Center for Rare Diseases « Intellectual disabilities of rare causes » Déficiences Intellectuelles de Causes Rares, University Hospital Pitié Salpêtrière, Paris, France.

Cyril Mignot (C)

Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France.
Reference Center for Rare Diseases « Intellectual disabilities of rare causes » Déficiences Intellectuelles de Causes Rares, University Hospital Pitié Salpêtrière, Paris, France.

Delphine Héron (D)

Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France.
Reference Center for Rare Diseases « Intellectual disabilities of rare causes » Déficiences Intellectuelles de Causes Rares, University Hospital Pitié Salpêtrière, Paris, France.

Classifications MeSH