Pilarowski-Bjornsson syndrome

Definition:

Pilarowski-Bjornsson syndrome (PILBOS) is a neurodevelopmental disability characterized by autism, speech apraxia, developmental delay and facial dysmorphic features. It has been reported that missense mutations in the chromatin remodeler CHD1 are associated with PILBOS.

References:

[1]. Genay O Pilarowski, et al. Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. J Med Genet. 2018 Aug;55(8):561-566. [Content Brief]

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