Expanding the phenotype of cerebellar‐facial‐dental syndrome: Two siblings with a novel variant in BRF1-Reference-Cited by-同舟云学术

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Expanding the phenotype of cerebellar‐facial‐dental syndrome: Two siblings with a novel variant in BRF1

Published:2020-09-08 Issue:11 Volume:182 Page:2742-2745
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Valenzuela Irene¹²^ORCID,Codina Marta¹²,Fernández‐Álvarez Paula¹²,Mur Pilar³,Valle Laura³,Tizzano Eduardo F.¹²,Cuscó Ivon¹²

Affiliation:

1. Department of Clinical and Molecular Genetics Vall d'Hebron University Hospital Barcelona Spain

2. Medicine Genetics Group, Vall d'Hebron Research Institute Barcelona Spain

3. Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL and CIBERONC, Hospitalet de Llobregat Barcelona Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61839

Reference13 articles.

1. AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

2. Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer

3. BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

4. RNA polymerase III transcription in cancer: the BRF2 connection

5. Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies;International Journal of Developmental Neuroscience;2024-07-14

2. MAF1, a repressor of RNA polymerase III-dependent transcription, regulates bone mass;eLife;2022-05-25

3. A novel BRF1 mutation in two middle-aged siblings with cerebellofaciodental syndrome;Chinese Medical Journal;2021-12-22

4. Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant;Journal of American Association for Pediatric Ophthalmology and Strabismus;2021-12

5. Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics;American Journal of Medical Genetics Part A;2021-03

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