A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction-Reference-Cited by-同舟云学术

A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction

Published:2020-06 Issue:6 Volume:63 Page:103923
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ekinci Faruk,Yildizdas Riza Dincer,Horoz Ozden Ozgur,Herguner Ozlem,Bisgin Atil

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference22 articles.

1. Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations;Abdel-Hamid;J. Hum. Genet.,2017

2. Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: report of a new mutation and review of literature;Aggarwal;Eur. J. Med. Genet.,2016

3. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis;Aicardi;Ann. Neurol.,1984

4. Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts;Akawi;Hum. Mutat.,2013

5. Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype;Briggs;Am. J. Med. Genet.,2008

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