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

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 syndrome....

Descripción completa

Detalles Bibliográficos
Autores principales: Cogan, Guillaume, Bourgon, Nicolas, Borghese, Roxana, Julien, Emmanuel, Jaquette, Aurélia, Stos, Bertrand, Achaiaa, Amale, Chuon, Sophie, Nitschke, Patrick, Fourrage, Cécile, Stirnemann, Julien, Boutaud, Lucile, Attie‐Bitach, Tania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496051/
https://www.ncbi.nlm.nih.gov/pubmed/37353886
http://dx.doi.org/10.1002/mgg3.2219

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496051/
https://www.ncbi.nlm.nih.gov/pubmed/37353886
http://dx.doi.org/10.1002/mgg3.2219

Ejemplares similares