A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome-Reference-Cited by-同舟云学术

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A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome

Published:2019-07-11 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Hung Christina Y.¹,Rodriguez Mario²,Roberts Abra¹,Bauer Mislen³,Mihalek Ivana⁴,Bodamer Olaf¹^ORCID

Affiliation:

1. Division of Genetics and GenomicsBoston Children's Hospital Boston Massachusetts

2. Hussmann Institute of Genomics, University of Miami Miami Florida

3. Division of Clinical Genetics and MetabolismNicklas Children's Hospital Miami Florida

4. Department of Molecular Medicine and BiotechnologyUniversity of Rijeka Rijeka Croatia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61291

Reference34 articles.

1. Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome;Ababneh F. K.;American Journal of Medical Genetics. Part A,2013

2. Variability of systemic and oro‐dental phenotype in two families with non‐lethal Raine syndrome with FAM20C mutations;Acevedo A. C.;BMC Medical Genetics,2015

3. The Protein Data Bank;Berman H. M.;Nucleic Acids Research,2000

4. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis;Boissel S.;Genetics in Medicine,2018

5. PROVEAN web server: A tool to predict the functional effect of amino acid substitutions and indels;Choi Y.;Bioinformatics,2015

Cited by 15 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. Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis;Scientific Reports;2024-04-25

2. Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C;Prenatal Diagnosis;2024-01

3. Case report: Enamel renal syndrome: a case series from sub-Saharan Africa;Frontiers in Oral Health;2023-08-22

4. Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis;International Journal of Molecular Sciences;2023-05-17

5. Compound heterozygous FAM20C gene variants in a patient with severe Raine syndrome: a case report;Frontiers in Genetics;2023-04-26

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