Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man
Bongers, Ernie M H F, de Wijs, Ilse J, Marcelis, Carlo, Hoefsloot, Lies H, Knoers, Nine V A MVolume:
16
Year:
2008
Language:
english
Pages:
5
DOI:
10.1038/ejhg.2008.83
File:
PDF, 115 KB
english, 2008