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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 17/07/2006 |
Symbol | CNCTP |
Location | 17p13.1 |
Name | Carney complex associated to trismus-pseudocamptodactyly |
Other name(s) | Carney complex variant |
Corresponding gene | MYH8 |
Other symbol(s) | CNC-TPC |
Main clinical features | cardiac myxoma, spotty pigmentation, distal arthrogryposis |
Genetic determination | autosomal dominant |
Function/system disorder | cardiovascular |
neuromuscular | |
dermatology | |
Type | disease |
Gene product |
Name | myosin, heavy polypeptide 8 |