Expanding spectrum of PCDH12 related phenotype begs exploration of multipronged pathomechanisms
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Reference7 articles.
1. The phenotypic spectrum of PCDH12 associated disorders - five new cases and review of the literature;Fazeli;Eur. J. Paediatr. Neurol.,2021
2. PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy;Accogli;Eur. J. Med. Genet.,2021
3. Loss of function of PCDH12 underlies recessive microcephaly mimicking in-trauterine infection;Aran;Neurology,2016
4. A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy;Suzuki-Muromoto;J. Hum. Genet.,2018
5. Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia,retinopathy, and dysmorphism;Vineeth;J. Hum. Genet.,2019
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