Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing

BACKGROUND: Atelosteogenesis type I (AO-I) is a rare lethal skeletal dysplastic disorder characterized by severe short-limbed dwarfism and dislocated hips, knees, and elbows. AO-I is caused by mutations in the filamin B (FLNB) gene; however, several other genes can cause AO-like lethal skeletal dysp...

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Detalles Bibliográficos
Autores principales: Jeon, Ga Won, Lee, Mi-Na, Jung, Ji Mi, Hong, Seong Yeon, Kim, Young Nam, Sin, Jong Beom, Ki, Chang-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2014
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3948826/
https://www.ncbi.nlm.nih.gov/pubmed/24624349
http://dx.doi.org/10.3343/alm.2014.34.2.134

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3948826/
https://www.ncbi.nlm.nih.gov/pubmed/24624349
http://dx.doi.org/10.3343/alm.2014.34.2.134

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