First Case of a Dominant De Novo <i>SEC23A</i> Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review

First Case of a Dominant De Novo <i>SEC23A</i> Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review

Cranio-lenticulo-sutural dysplasia (CLSD, OMIM #607812) is a rare genetic condition characterized by late-closing fontanels, skeletal defects, dysmorphisms, and congenital cataracts that are caused by bi-allelic or monoallelic variants in the <i>SEC23A</i> gene. Autosomal recessive inher...

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Bibliographic Details
Main Authors: Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo
Format: Article
Language:English
Published: MDPI AG 2024-01-01
Series:Genes
Subjects:
Cranio-lenticulo-sutural dysplasia
<i>SEC23A</i>
genotype–phenotype correlation
literature overview
neurological manifestations
Online Access:https://www.mdpi.com/2073-4425/15/1/130

Internet

https://www.mdpi.com/2073-4425/15/1/130

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