@article {312,
	title = {Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.},
	journal = {Clin Genet},
	volume = {84},
	year = {2013},
	month = {2013 Oct},
	pages = {394-5},
	keywords = {Abnormalities, Multiple, Base Sequence, Child, Consanguinity, Exome, Humans, Male, Membrane Proteins, Pedigree, Phenotype, Sequence Analysis, DNA, Syndrome},
	issn = {1399-0004},
	doi = {10.1111/cge.12088},
	author = {Caglayan, A O and Per, H and Akgumus, G and Gumus, H and Baranoski, J and Canpolat, M and Calik, M and Yikilmaz, A and Bilguvar, K and Kumandas, S and Gunel, M}
}
