- Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing
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Jeon GW, Lee MN, Jung JM, Hong SY, Kim YN, Sin JB, Ki CS
- KMID: 1791906
- Ann Lab Med.
- 2014 Mar;34(2):134-138.
- doi: 10.3343/alm.2014.34.2.134
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... -
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- A case of FLNA gene mutation with respiratory insufficiency and periventricular heterotopia
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Park H, Park MS, Ki CS, Cho J, Lee J, Kim J, Ahn K
- KMID: 2461409
- Allergy Asthma Respir Dis.
- 2019 Jul;7(3):158-164.
- doi: 10.4168/aard.2019.7.3.158
Filamin A is an actin-binding protein and, in humans, is encoded by FLNA gene in the long arm of X chromosome. Filamin A plays a role in the formation of... -
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