Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1

Massive parallel sequencing of 70 genes in a girl with a suspicion of chromatinopathy detected the (NM_015443.4:)c.985_986delTT variant in exon 2 of KANSL1, which led to a diagnostic consideration of Koolen De Vries syndrome. The same variant was present in the healthy mother, consistent with either...

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Detalles Bibliográficos
Autores principales: Bigoni, Stefania, Marangi, Giuseppe, Frangella, Silvia, Panfili, Arianna, Ognibene, Davide, Squeo, Gabriella Maria, Merla, Giuseppe, Zollino, Marcella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7600039/
https://www.ncbi.nlm.nih.gov/pubmed/33050294
http://dx.doi.org/10.3390/genes11101177

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7600039/
https://www.ncbi.nlm.nih.gov/pubmed/33050294
http://dx.doi.org/10.3390/genes11101177

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