14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

Abstract Background Chromosome 14q11‐q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including FOXG1(*164874), NKX2‐1(*600635), and PAX9(*167416) and a distal region (RO2), i...

Full description

Bibliographic Details
Main Authors: Emanuela Ponzi, Mattia Gentile, Emanuele Agolini, Emilia Matera, Roberto Palumbi, Antonia Lucia Buonadonna, Antonia Peschechera, Alessandra Gabellone, Maria Fatima Antonucci, Lucia Margari
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
14q13 microdeletion syndrome
BAZ1A
CNS anomalies
SNX6
Online Access:https://doi.org/10.1002/mgg3.1289

Internet

https://doi.org/10.1002/mgg3.1289

Similar Items