Congenital microcephaly and chorioretinopathy due to de novo heterozygousKIF11mutations: Five novel mutations and review of the literature-Reference-Cited by-同舟云学术

Congenital microcephaly and chorioretinopathy due to de novo heterozygousKIF11mutations: Five novel mutations and review of the literature

Published:2014-08-12 Issue:11 Volume:164 Page:2879-2886
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mirzaa Ghayda M.¹²,Enyedi Laura³,Parsons Gretchen⁴,Collins Sarah²,Medne Livija⁵,Adams Carissa²,Ward Thomas⁶,Davitt Bradley⁷,Bicknese Alma⁸,Zackai Elaine⁹,Toriello Helga⁴,Dobyns William B.¹²^ORCID,Christian Susan²

Affiliation:

1. Division of Genetic Medicine; Department of Pediatrics; University of Washington and Center for Integrative Brain Research Seattle Children's Research Institute; Seattle Washington

2. Center for Integrative Brain Research; Seattle Children's Research Institute; Seattle Washington

3. Departments of Ophthalmology and Pediatrics; Duke University; Durham North Carolina

4. Clinical Genetics; Spectrum Health Medical Genetics; Grand Rapids Michigan

5. Division of Neurology; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

6. Urban Lab; Department of Psychiatry and Behavioral Sciences; Stanford University; Palo Alto California

7. Departments of Ophthalmology and Pediatrics; Cardinal Glennon Children's Medical Center; Saint Louis University School of Medicine; St. Louis Missouri

8. Division of Pediatric Neurology; Department of Pediatrics; University of Illinois at Chicago; Chicago Illinois

9. Department of Human Genetics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. Congenital microcephaly with a simplified gyral pattern: associated findings and their significance;Adachi;AJNR Am J Neuroradiol,2011

2. Clinical and brain imaging heterogeneity of severe microcephaly;Basel-Vanagaite;Pediatr Neurol,2010

3. Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome;Feingold;Am J Med Genet,1992

4. Ophthalmologic findings in Aicardi syndrome;Fruhman;J AAPOS,2012

5. On the nosology of the “primary true microcephaly, chorioretinal dysplasia, lymphoedema” association;Fryns;Clin Genet,1995

Cited by 35 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. Eg5 UFMylation promotes spindle organization during mitosis;2024-01-18

2. Regulation of ciliary homeostasis by intraflagellar transport-independent kinesins;Cell Death & Disease;2024-01-13

3. Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome;Cells;2023-11-05

4. Maximal clique centrality and bottleneck genes as novel biomarkers in ovarian cancer;Biotechnology and Genetic Engineering Reviews;2023-02-21

5. Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly;Cells;2023-02-16