نتایج جستجو برای: whole exome sequencing

تعداد نتایج: 385547  

2014
Ga Won Jeon Mi-Na Lee Ji Mi Jung Seong Yeon Hong Young Nam Kim Jong Beom Sin Chang-Seok Ki

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 dysplasias. METHODS In order to screen all possible genes associated with AO-like lethal skeletal dy...

Journal: :Journal of Pediatric Gastroenterology & Nutrition 2019

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