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GENATLAS PHENOTYPE

last update : 31-03-2015

Symbol	ADCL1
Location	7q11.23
Name	cutis laxa autosomal dominant 1 (elastin reduced expression)
Corresponding gene	ELN
Main clinical features	characterized by redundant, pendulous and inelastic skin, with disordered elastic fibers rather abruptly fragmented, disorganized and scarce with resultant emphysema, aortic aneurysm and bowel diverticula, in addition to cutis laxa at electron microscopy extracellular elastin deposits lacking microfibrillar elements
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	connective tissue
	dermatology
Type	disease

Gene product

Name	elastin (ELN)

Remark(s)