DOI: 10.1055/s-00029030

Journal of Pediatric Neurology

References

Bhoj EJ, Li D, Harr M. , et al.
Mutations in TBCK, encoding TBC1-domain-containing kinase, lead to a recognizable syndrome of intellectual disability and hypotonia.

Am J Hum Genet 2016;
98 (04) 782-788

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