Chiari I malformation in a Waardenburg phenotype with multiple malformations and 1q21.1 microdeletion

The authors report on a patient with Chiari I malformation associated to Waardenburg phenotype, multiple malformations, osteochondrodysplasia and microdeletion of 1q21,1 chromosome, of which they underline the rarity. The pathogenesis connected to the features of neural crest cells-derived structur...

Full description

Bibliographic Details
Main Authors: Agostino Berio, Gian Luigi Mariottini, Marco Frascio, Enrico Calcagno, Giacomo Garlaschi, Giuseppe Mangiante, Attilia Piazzi
Format: Article
Language:English
Published: PAGEPress Publications 2021-01-01
Series:Journal of Biological Research
Subjects:
Online Access:https://www.pagepressjournals.org/index.php/jbr/article/view/9259