Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

Pathogenic variants in the MKS1 gene are responsible for a ciliopathy with a wide spectrum of clinical manifestations ranging from Meckel and Joubert syndrome (JBTS) to Bardet-Biedl syndrome, and involving the central nervous system, liver, kidney, skeleton, and retina. We report a 39-year-old male...

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Salvato in:
Dettagli Bibliografici
Pubblicato in:Diagnostics (Basel)
Autori principali: Brunetti-Pierri, Raffaella, Karali, Marianthi, Testa, Francesco, Cappuccio, Gerarda, Onore, Maria Elena, Romano, Francesca, De Rosa, Giuseppe, Tedeschi, Enrico, Brunetti-Pierri, Nicola, Banfi, Sandro, Simonelli, Francesca
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2021
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8303764/
https://ncbi.nlm.nih.gov/pubmed/34359301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics11071218
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