Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the <i>DLX5/6</i> Genes

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the <i>DLX5/6</i> Genes

Split Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by a median cleft of the hands and/or feet due to the absence/hypoplasia of the central rays. It may occur as part of a syndromic condition or as an isolated malformation. The most common of the six genetic loci identified...

Full description

Bibliographic Details
Main Authors: Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon, Maria Grazia Giuffrida, Valentina Guida, Francesca Peluso, Maria Chiara Baroni, Valeria Polizzi, Manuela Napoli, Simonetta Rosato, Gabriele Trimarchi, Chiara Gelmini, Stefano Giuseppe Caraffi, Anita Wischmeijer, Daniele Frattini, Antonio Novelli, Livia Garavelli
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Genes
Subjects:
ectrodactyly
SHFM
<i>DLX5</i>
<i>DLX6</i>
<i>DYNC1I1</i>
TADs
Online Access:https://www.mdpi.com/2073-4425/14/8/1526

Internet

https://www.mdpi.com/2073-4425/14/8/1526

Similar Items