This is an interim version of our Electronic Legal Deposit Catalogue-eJournals and eBooks while we continue to recover from a cyber-attack.
"Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu‐Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome" Am J Med Genet. 161:518–526, 2013. Issue 10 (17th September 2013)
Record Type:
Journal Article
Title:
"Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu‐Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome" Am J Med Genet. 161:518–526, 2013. Issue 10 (17th September 2013)
Main Title:
"Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu‐Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome" Am J Med Genet. 161:518–526, 2013