Results 1 -
4
of
4
for
Constitutional symptom
- ... KA. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and ...
- ... L. Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence ...
- ... Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. ...
- ... Swansbury J, Irrthum A, Douglas J, Rahman N. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations ...