TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

Biallelic mutations in the TTC5 gene have been associated with autosomal recessive intellectual disability (ARID) and subsequently with an ID syndrome including severe speech impairment, cerebral atrophy, and hypotonia as clinical cornerstones. A TTC5 role in IDs has been proposed based on the physi...

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Detalles Bibliográficos
Autores principales: Musante, Luciana, Faletra, Flavio, Meier, Kolja, Tomoum, Hoda, Najarzadeh Torbati, Paria, Blair, Edward, North, Sally, Gärtner, Jutta, Diegmann, Susann, Beiraghi Toosi, Mehran, Ashrafzadeh, Farah, Ghayoor Karimiani, Ehsan, Murphy, David, Murru, Flora Maria, Zanus, Caterina, Magnolato, Andrea, La Bianca, Martina, Feresin, Agnese, Girotto, Giorgia, Gasparini, Paolo, Costa, Paola, Carrozzi, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9541101/
https://www.ncbi.nlm.nih.gov/pubmed/35670379
http://dx.doi.org/10.1002/ajmg.a.62852

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9541101/
https://www.ncbi.nlm.nih.gov/pubmed/35670379
http://dx.doi.org/10.1002/ajmg.a.62852

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