Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating Variants

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating Variants

Pathogenic variants in the <i>MKS1</i> 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...

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Bibliographic Details
Main Authors: Raffaella Brunetti-Pierri, Marianthi Karali, Francesco Testa, Gerarda Cappuccio, Maria Elena Onore, Francesca Romano, Giuseppe De Rosa, Enrico Tedeschi, Nicola Brunetti-Pierri, Sandro Banfi, Francesca Simonelli
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Diagnostics
Subjects:
<i>MKS1</i>
autosomal recessive Retinitis Pigmentosa
Joubert syndrome
phenotype extension
Online Access:https://www.mdpi.com/2075-4418/11/7/1218

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