Only a few patients with end-truncating mutations in LAMB1 have currently been reported in the medical literature. Therefore, the full clinical spectrum of the syndrome is still unknown, hampering the counseling of families and optimal management of the patients.
The overall aims of our research are:
• to identify additional patients with end-truncating mutations in LAMB1
• to characterize the clinical spectrum of the syndrome
• to provide insights into the pathogenic mechanism of end-truncated LAMB1
LAMB1 Autosomal Dominant