Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-{beta}-opathies with craniofacial manifestations using an innovative multimodality method

Conclusions This comprehensive phenotypic approach identifies developmental abnormalities that segregate to mutation variants along the TGF-β signalling pathway, with a particularly severe phenotype associated with TGFBR2 and SKI mutations. Multimodality assessment of craniofacial anomalies objectively reveals the impact of mutations of the TGF-β pathway with perturbations associated with the cranium and cranial base with severe downstream effects on the orbit, maxilla and mandible with the resultant clinical phenotypes.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Open access Genotype-phenotype correlations Source Type: research