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GENATLAS PHENOTYPE

last update : 14-11-2012

Symbol	LBNBG
Location	5q31.1
Name	Liebenberg syndrome or carpal synostosis with dysplastic elbow joints and brachydactyly
Corresponding gene	PITX1
Main clinical features	upper limb malformation characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation partial homeotic transformation of the upper extremities true homeotic limb transformation affecting the morphology of the entire extremity, including bones and joints, as well as muscles and tendons
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	malformation

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