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...

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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

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