Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

Biallelic PNKP variants cause heterogeneous disorders ranging from neurodevelopmental disorder with microcephaly/seizures to adult-onset Charcot–Marie–Tooth disease. To date, only postnatal descriptions exist. We present the first prenatal diagnosis of PNKP-related primary microcephaly. Pathological...

Descripción completa

Detalles Bibliográficos
Autores principales: Neuser, Sonja, Krey, Ilona, Schwan, Annemarie, Abou Jamra, Rami, Bartolomaeus, Tobias, Döring, Jan, Syrbe, Steffen, Plassmann, Margit, Rohde, Stefan, Roth, Christian, Rehder, Helga, Radtke, Maximilian, Le Duc, Diana, Schubert, Susanna, Bermúdez-Guzmán, Luis, Leal, Alejandro, Schoner, Katharina, Popp, Bernt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8738728/
https://www.ncbi.nlm.nih.gov/pubmed/34697416
http://dx.doi.org/10.1038/s41431-021-00982-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8738728/
https://www.ncbi.nlm.nih.gov/pubmed/34697416
http://dx.doi.org/10.1038/s41431-021-00982-y

Ejemplares similares