Condition: Weill-Marchesani syndrome
rs727503056
in
FBN1
gene and
Weill-Marchesani syndrome
PMID 12068374
2002 Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.
PMID 12525539
2003 In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.