Article
Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates.
American journal of medical genetics. Part A - 1 Mar 2014
Macchiaiolo M, Mennini M, Digilio M C, Buonuomo P S, Lepri F R, Gnazzo M, Grandin A, Angioni A, Bartuli A
Abstract excerpt
Trichorhinophalangeal syndrome (TRPS) is a rare, autosomal dominant malformation syndrome characterized by hair, craniofacial and skeletal abnormalities, skin laxity, deformation of phalanges and anomalies of pelvis, femurs, and tibias. Three subtypes have been described: TRPS I, caused by mutations in TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and TRPS III,...
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