Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs

Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs

Abstract Introduction CREBBP truncating mutations and deletions are responsible for the well‐known Rubinstein‐Taybi syndrome. Recently, a new, distinct CREBBP‐linked syndrome has been described: missense mutations located at the 3′ end of exon 30 and the 5′ portion of exon 31 induce Menke‐Hennekam s...

Description complète

Détails bibliographiques
Auteurs principaux: Guillaume Cogan, Nicolas Bourgon, Roxana Borghese, Emmanuel Julien, Aurélia Jaquette, Bertrand Stos, Amale Achaiaa, Sophie Chuon, Patrick Nitschke, Cécile Fourrage, Julien Stirnemann, Lucile Boutaud, Tania Attie‐Bitach
Format: Article
Langue:English
Publié: Wiley 2023-09-01
Collection:Molecular Genetics & Genomic Medicine
Sujets:
fetal anomalies
Menke‐Hennekam syndrome
molecular genetics
CREBBP
Accès en ligne:https://doi.org/10.1002/mgg3.2219

Internet

https://doi.org/10.1002/mgg3.2219

Documents similaires