Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling

Multilocus disease-causing genomic variations (MGVs) and multiple genetic diagnoses (MGDs) are increasingly being recognised in individuals and families with Mendelian disorders. This can be mainly attributed to the widespread use of genomic tests for the evaluation of these disorders. We conducted...

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Detalles Bibliográficos
Autores principales: Narayanan, Dhanya Lakshmi, Udyawar, Divya, Kaur, Parneet, Sharma, Suvasini, Suresh, Narayanaswamy, Nampoothiri, Sheela, do Rosario, Michelle C., Somashekar, Puneeth H., Rao, Lakshmi Priya, Kausthubham, Neethukrishna, Majethia, Purvi, Pande, Shruti, Ramesh Bhat, Y., Shrikiran, Aroor, Bielas, Stephanie, Girisha, Katta Mohan, Shukla, Anju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633282/
https://www.ncbi.nlm.nih.gov/pubmed/34276053
http://dx.doi.org/10.1038/s41431-021-00933-7

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