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Article

Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth.

American journal of medical genetics. Part A - 1 Feb 2021

Selvam Pavalan, Jain Angita, Cheema Anvir, Atwal Herjot, Forghani Irman, Atwal Paldeep S

Abstract excerpt

Casein kinase 2-related disorders have been linked to pathogenic variants in CSNK2A1 and CSNK2B. CSNK2B-related disease is predominantly associated with neurodevelopmental abnormalities affecting cognition; however, the extent of the phenotype associated with CSNK2B pathogenic variants is yet to be fully explored. Here, we describe a patient with features suggestive of Poirier-Bienvenu neurodevelopmental...

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PMID: 33166063
DOI: 10.1002/ajmg.a.61960

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