Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies

Here we present a patient with a cranioectodermal phenotype associated with pathogenic variants in the IFT140 gene. Most frequently, pathogenic variants in IFT140 correspond to the phenotype of Mainzer–Saldino syndrome. Only four patients have previously been described with this cranioectodermal phe...

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Detalles Bibliográficos
Autores principales: Sharova, Margarita, Markova, Tatyana, Sumina, Maria, Petukhova, Marina, Bulakh, Maria, Ryzhkova, Oxana, Nagornova, Tatyana, Ionova, Sofya, Marakhonov, Andrey, Dadali, Elena, Kutsev, Sergey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454909/
https://www.ncbi.nlm.nih.gov/pubmed/37628605
http://dx.doi.org/10.3390/genes14081553

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