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GENATLAS PHENOTYPE

last update : 06-07-2011

Symbol	PNES
Location	14Q32.12
Name	peripheral neuropathy, age-related macular degeneration and hyperelastic skin.
Other name(s)	Charcot-Marie-Tooth neuropathy subtype
Corresponding gene	FBLN5
Main clinical features	variable association of mild to severe Charcot-Marie-Tooth disease, hyperextensible skin and age-related macular degeneration, PMID: 21576112
Genetic determination
Function/system disorder
Type	disease

Gene product

Name	a widely expressed constituent of the extracellular matrix that has an essential role in elastic fibre assembly

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense

Remark(s)