Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature

19q13 microdeletion syndrome is a very rare genetic disease characterized by pre- and postnatal growth retardation, intellectual disability, expressive language impairment, ectodermal dysplasia, and slender habitus. Since the description of the first case in 1998, less than 30 cases have been report...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Genes 2022-01, Vol.13 (2), p.212
Hauptverfasser: Shelby, Elena-Silvia, Morris, Michael, Pădure, Liliana, Mirea, Andrada, Cocoș, Relu, Cărămizaru, Alexandru, Șerban-Sosoi, Simona, Pîrvu, Andrei, Streață, Ioana
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!