Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.


Hypochondroplasia (HCH), an autosomal dominant skeletal dysplasia caused by mutations in the FGFR3 gene, has not been commonly associated with neurological problems. Temporal lobe dysgenesis associated with epilepsy was recently described in single patients. In this retrospective study, we assessed neurological and neuroimaging aspects of 13 FGFR3 (N540K… (More)
DOI: 10.1002/ajmg.a.35642


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