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

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Detalles Bibliográficos
Autores principales: Ambrosetti, Irene, Bernardini, Laura, Pollazzon, Marzia, Giuffrida, Maria Grazia, Guida, Valentina, Peluso, Francesca, Baroni, Maria Chiara, Polizzi, Valeria, Napoli, Manuela, Rosato, Simonetta, Trimarchi, Gabriele, Gelmini, Chiara, Caraffi, Stefano Giuseppe, Wischmeijer, Anita, Frattini, Daniele, Novelli, Antonio, Garavelli, Livia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454356/
https://www.ncbi.nlm.nih.gov/pubmed/37628577
http://dx.doi.org/10.3390/genes14081526

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454356/
https://www.ncbi.nlm.nih.gov/pubmed/37628577
http://dx.doi.org/10.3390/genes14081526

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