Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome

Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome

Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. (A) Maternal inheritance to two daughters in Family 1, (B) Paternal inheritance to a daughter in Family 2, and (C) Maternal inheritance to two sons in Family 3.

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Clinical genetics 2023-11, Vol.104 (5), p.607-609
Hauptverfasser: Belnap, Newell, Price‐Smith, Aiai, Ramsey, Keri, Leka, Kamawela, Abraham, Anna, Lieberman, Emma, Hassett, Katie, Potu, Sai, Rudy, Natasha, Smith, Kirstin, Mikhail, Fady M., Monaghan, Kirstin G., Hendershot, Andrea, Mourmans, Jeroen, Descartes, Maria, Huentelman, Matthew J., Sills, Jennifer, Rangasamy, Sampath, Narayanan, Vinodh
Format: Artikel
Sprache:eng
Schlagworte:
Autosomal dominant inheritance
casein kinase 2
CSNK2A1
inherited variants
Maternal inheritance
Neurodevelopmental disorders
Okur‐Chung neurodevelopmental syndrome
variable expressivity
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. (A) Maternal inheritance to two daughters in Family 1, (B) Paternal inheritance to a daughter in Family 2, and (C) Maternal inheritance to two sons in Family 3.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.14408