Novel <i>CTNNB1</i> variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report-Reference-Cited by-同舟云学术

Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report

Author:

Spagnoli Carlotta¹^ORCID,Salerno Grazia G.¹,Rizzi Susanna¹^ORCID,Frattini Daniele¹,Koskenvuo Juha²³,Fusco Carlo¹⁴

Affiliation:

1. Department of Pediatrics, Child Neurology Unit Azienda USL‐IRCCS di Reggio Emilia Reggio Emilia Italy

2. University of Helsinki Helsinki Finland

3. Blueprint Genetics Helsinki Finland

4. Department of Pediatrics, Pediatric Neurophysiology Laboratory Azienda USL‐IRCCS di Reggio Emilia Reggio Emilia Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

Reference9 articles.

3. Charcot‐Marie‐Tooth disease and other genetic polyneuropathies;Ramchandren S.;Continuum,2017

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