A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon-Reference-Cited by-同舟云学术

A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon

Published:2015-11 Issue:6 Volume:19 Page:743-746
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Kaçar Bayram Ayşe,Per Hüseyin^ORCID,Quon Jennifer,Canpolat Mehmet,Ülgen Ege,Doğan Hakkı,Gumus Hakan,Kumandas Sefer,Bayram Nurettin,Bilguvar Kaya,Çağlayan Ahmet Okay

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference15 articles.

1. 110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25–27 October, 2002;Gutowski;Neuromuscul Disord,2003

2. Congenital fibrosis of the extraocular muscles; a report of six cases;Laughlin;Am J Ophthalmol,1956

3. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX;Engle;BMC Genet,2002

4. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12;Engle;Nat Genet,1994

5. A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon;Yamada;Arch Ophthalmol,2005

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. A reformed “release hypothesis” for Marcus Gunn Syndrome, based on newer clinic observations and experimental evidences;Medical Hypotheses;2020-11

2. Congenital fibrosis of the extraocular muscles;Current Opinion in Ophthalmology;2019-09

3. Is Marcus Gunn jaw winking a primitive reflex? Rat neuroanatomy;International Journal of Ophthalmology;2018-03-18

4. Case of congenital fibrosis of the extraocular muscles type 1 with progressive cerebellar ataxia;Neurology and Clinical Neuroscience;2017-12-28

5. Familial Congenital Facial Synkinesis Due to 12q Duplication: A Case Report and Literature Review;Pediatrics;2016-12-01