Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms-Reference-Cited by-同舟云学术

Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms

Published:2020-02 Issue:2 Volume:63 Page:103658
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Redwood A.,Douzgou S.,Waller S.,Ramsden S.,Roberts A.,Bonin H.,Lloyd I.C.,Ashworth J.,Black G.C.M.,Clayton-Smith J.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference21 articles.

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2. Whole transcriptome sequencing identifies BCOR internal tandem duplication as a common feature of clear cell sarcoma of the kidney;Astolfi;Oncotarget,2015

3. Evidence of germline mosaicism for a novel BCOR mutation in two Indian sisters with oculo-facio-cardio-dental syndrome;Danda;Mol. Syndromol.,2014

4. Oculofaciocardiodental syndrome: a rare case and review of the literature;Davoody;Cleft Palate-Craniofacial J.,2012

5. Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion;Di Stefano;Gene,2015

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1. Oculofaciocardiodental syndrome caused by a novel BCOR variant;Human Genome Variation;2023-06-12

2. Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series;European Journal of Ophthalmology;2023-05-08

3. BCOR variants are associated with X-linked recessive partial epilepsy;Epilepsy Research;2022-11

4. A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts;European Journal of Human Genetics;2022-10-20

5. Cataract;Clinical Ophthalmic Genetics and Genomics;2022