The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature-Reference-Cited by-同舟云学术

The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature

Published:2022-01 Issue: Volume:36 Page:7-13
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Fazeli Walid^ORCID,Bamborschke Daniel,Moawia Abubakar,Bakhtiari Somayeh,Tafakhori Abbas,Giersdorf Matthias^ORCID,Hahn Andreas,Weik Anja,Kolzter Kirsten,Shafiee Sajad,Jin Sheng Chih,Körber Friederike,Lee-Kirsch Min Ae,Darvish Hossein,Cirak Sebahattin,Kruer Michael C.,Koy Anne

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference19 articles.

1. Loss of protocadherin-12 leads to diencephalic-mesencephalic junction dysplasia syndrome;Guemez-Gamboa;Ann. Neurol.,2018

2. A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy;Suzuki-Muromoto;J. Hum. Genet.,2018

3. Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism;Vineeth;J. Hum. Genet.,2019

4. Brain calcifications and PCDH12 variants;Nicolas;Neurol Genet,2017

5. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection;Aran;Neurology,2016

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3. Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with <i>GSX2</i> and <i>PCDH12</i> Variants;Molecular Syndromology;2024

4. PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model;Cell Reports;2023-08

5. Impaired migration and premature differentiation underlie the neurological phenotype associated with PCDH12 loss of function;2023-01-05