Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6

While inherited hemizygous variants in PHF6 cause X‐linked recessive Borjeson‐Forssman‐Lehmann syndrome (BFLS) in males, de novo heterozygous variants in females are associated with an overlapping but distinct phenotype, including moderate to severe intellectual disability, characteristic facial dys...

Descripción completa

Detalles Bibliográficos
Autores principales: Gerber, Céline B., Fliedner, Anna, Bartsch, Oliver, Berland, Siren, Dewenter, Malin, Haug, Marte, Hayes, Ian, Marin‐Reina, Purificacion, Mark, Paul R., Martinez‐Castellano, Francisco, Maystadt, Isabelle, Karadurmus, Deniz, Steindl, Katharina, Wiesener, Antje, Zweier, Markus, Sticht, Heinrich, Zweier, Christiane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9543785/
https://www.ncbi.nlm.nih.gov/pubmed/35662002
http://dx.doi.org/10.1111/cge.14173

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9543785/
https://www.ncbi.nlm.nih.gov/pubmed/35662002
http://dx.doi.org/10.1111/cge.14173

Ejemplares similares