@article {103,
	title = {Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles.},
	journal = {Hum Mutat},
	year = {2013},
	month = {2013 May 14},
	abstract = {<p>We performed whole-exome sequencing of a family with autosomal dominant Dandy-Walker malformation and occipital cephaloceles and detected a mutation in the extracellular matrix (ECM) protein-encoding gene NID1. In a second family, protein interaction network analysis identified a mutation in LAMC1, which encodes a NID1-binding partner. Structural modeling of the NID1-LAMC1 complex demonstrated that each mutation disrupts the interaction. These findings implicate the ECM in the pathogenesis of Dandy-Walker spectrum disorders.</p>
},
	author = {Darbro, Benjamin W and Mahajan, Vinit B and Gakhar, Lokesh and Skeie, Jessica M and Campbell, Elizabeth and Wu, Shu and Bing, Xinyu and Millen, Kathleen J and Dobyns, William B and Kessler, John A and Jalali, Ali and Cremer, James and Segre, Alberto and Manak, J Robert and Aldinger, Kimerbly A and Suzuki, Satoshi and Natsume, Nagato and Ono, Maya and Hai, Huynh Dai and Viet, Le Thi and Loddo, Sara and Valente, Enza M and Bernardini, Laura and Ghonge, Nitin and Ferguson, Polly J and Bassuk, Alexander G}
}
