Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate

INTRODUCTION: Patients carrying interstitial deletions of the long arm of chromosome 9 show similar features. These phenotypes are often characterized by developmental delay, intellectual disability, short stature, and dysmorphism. Previously reported deletions differ in size and location spanning f...

Descripción completa

Detalles Bibliográficos
Autores principales: Szalai, Renata, Till, Agnes, Szabo, Andras, Melegh, Bela, Hadzsiev, Kinga, Czako, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090976/
https://www.ncbi.nlm.nih.gov/pubmed/37064343
http://dx.doi.org/10.1159/000525976

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090976/
https://www.ncbi.nlm.nih.gov/pubmed/37064343
http://dx.doi.org/10.1159/000525976

Ejemplares similares