Further characterization of NFIB ‐associated phenotypes: Report of two new individuals

Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB. The first is a 7‐year 9‐month old boy with devel...

Descripción completa

Detalles Bibliográficos
Autores principales: Marinella, Gemma, Conti, Eugenia, Buchignani, Bianca, Sgherri, Giada, Pasquariello, Rosa, Giordano, Flavio, Cristofani, Paola, Battini, Roberta, Battaglia, Agatino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091694/
https://www.ncbi.nlm.nih.gov/pubmed/36321570
http://dx.doi.org/10.1002/ajmg.a.63018

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091694/
https://www.ncbi.nlm.nih.gov/pubmed/36321570
http://dx.doi.org/10.1002/ajmg.a.63018

Ejemplares similares