A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A-Reference-Cited by-同舟云学术

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A

Published:2014-11-12 Issue:12 Volume:23 Page:1729-1734
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Fine Dina,Flusser Hagit,Markus Barak,Shorer Zamir,Gradstein Libe,Khateeb Shareef,Langer Yshia,Narkis Ginat,Birk Ruth,Galil Aharon,Shelef Ilan,Birk Ohad S

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014241.pdf

Reference12 articles.

1. Gilmore EC, Walsh CA : Genetic causes of microcephaly and lessons from neuronal development. Wiley Interdiscip Rev Dev Biol 2013; 2: 461–478.

2. Markus B, Alshafee I, Birk OS : Deciphering the fine-structure of tribal admixture in the Bedouin population using genomic data. Heredity (Edinb) 2014; 112: 182–189.

3. Zolotushko J, Flusser H, Markus B et al. The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter. Eur J Hum Genet 2011; 19: 942–946.

4. Fishelson M, Geiger D : Exact genetic linkage computations for general pedigrees. Bioinformatics 2002; 18: S189–S198.

5. Markus B, Narkis G, Landau D et al. Autosomal recessive congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. Hum Mutat 2012; 33: 1435–1438.

Cited by 14 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. Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning;Translational Psychiatry;2024-01-18

2. De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement;The American Journal of Human Genetics;2022-10

3. The Roles of Par3, Par6, and aPKC Polarity Proteins in Normal Neurodevelopment and in Neurodegenerative and Neuropsychiatric Disorders;The Journal of Neuroscience;2022-06-15

4. Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia;Frontiers in Pediatrics;2021-11-17

5. Human‐modified canids in human‐modified landscapes: The evolutionary consequences of hybridization for grey wolves and free‐ranging domestic dogs;Evolutionary Applications;2021-06-21