Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

BACKGROUND: We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. METHODS: We performed whole exome sequencing to identify the causative variants. S...

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Detalles Bibliográficos
Autores principales: Venugopal, Parvathy, Gagliardi, Lucia, Forsyth, Cecily, Feng, Jinghua, Phillips, Kerry, Babic, Milena, Poplawski, Nicola K., Rienhoff, Hugh Young, Schreiber, Andreas W., Hahn, Christopher N., Brown, Anna L., Scott, Hamish S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026993/
https://www.ncbi.nlm.nih.gov/pubmed/32066420
http://dx.doi.org/10.1186/s12881-020-0971-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026993/
https://www.ncbi.nlm.nih.gov/pubmed/32066420
http://dx.doi.org/10.1186/s12881-020-0971-z

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