A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: A case report-Reference-Cited by-同舟云学术

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A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: A case report

Published:2014-06-12 Issue:9 Volume:164 Page:2385-2387
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Lazier Joanna¹^ORCID,Chernos Judy¹²,Lowry R. Brian¹³⁴

Affiliation:

1. Department of Medical Genetics, Alberta Children's Hospital; University of Calgary; Calgary Alberta

2. Cytogenetic Laboratory, Alberta Children's Hospital; University of Calgary; Calgary Alberta

3. Department of Pediatrics, Alberta Children's Hospital; University of Calgary; Calgary Alberta

4. Alberta Children's Hospital Research Institute for Child and Maternal Health; Calgary Alberta

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36636/fullpdf

Reference12 articles.

1. Filippi syndrome: Further clinical characterization;Battaglia;Am J Med Genet A,2008

2. Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: Case report and review;Boles;Am J Med Genet,1995

3. Transcription factor Sp3 is essential for post-natal survival and late tooth development;Bouwman;Embo J,2000

4. 2q31.1 microdeletion syndrome: Redefining the associated clinical phenotype;Dimitrov;J Med Genet,2011

5. Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome;Filippi;Am J Med Genet,1985

Cited by 4 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. A novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations;Journal of Clinical Laboratory Analysis;2022-07-12

2. CKAP2L mutation confirms the diagnosis of Filippi syndrome;Clinical Genetics;2018-02-23

3. Epilepsies in Children with 2q24.3 Deletion/Duplication;Journal of Pediatric Epilepsy;2015-07-03

4. Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome;The American Journal of Human Genetics;2014-11

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