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GENATLAS PHENOTYPE

last update : 14-01-2014

Symbol	SAMS
Location	14q32.1
Name	Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities
Corresponding gene	GSC
Main clinical features	short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora
Genetic determination	autosomal recessive
Function/system disorder	ear
	osteo-articular
Type	disease

Remark(s)

mutation with dysregulation of Goosecoid-mediated gene expression in SAMS causes connective tissues to undergo pathological differentiation and adopt new cartilaginous or osseous fates (PMID: 24290375))