Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes

Identifying multiple ultra-rare genetic syndromes with overlapping phenotypes is a diagnostic conundrum in clinical genetics. This study investigated the pathogenicity of a homozygous missense variant in GNB5 (GNB5L; NM_016194.4: c.920T > G (p. Leu307Arg); GNB5S; NM_006578.4: c.794T > G (p. Le...

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Detalles Bibliográficos
Autores principales: Shao, Zhuo, Masuho, Ikuo, Tumber, Anupreet, Maynes, Jason T., Tavares, Erika, Ali, Asim, Hewson, Stacy, Schulze, Andreas, Kannu, Peter, Martemyanov, Kirill A., Vincent, Ajoy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8469011/
https://www.ncbi.nlm.nih.gov/pubmed/34573334
http://dx.doi.org/10.3390/genes12091352

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8469011/
https://www.ncbi.nlm.nih.gov/pubmed/34573334
http://dx.doi.org/10.3390/genes12091352

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