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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |
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