Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

TitleWhole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.
Publication TypeJournal Article
Year of Publication2013
AuthorsCaglayan, AO, Per, H, Akgumus, G, Gumus, H, Baranoski, J, Canpolat, M, Calik, M, Yikilmaz, A, Bilguvar, K, Kumandas, S, Gunel, M
JournalClin Genet
Volume84
Issue4
Pagination394-5
Date Published2013 Oct
ISSN1399-0004
KeywordsAbnormalities, Multiple, Base Sequence, Child, Consanguinity, Exome, Humans, Male, Membrane Proteins, Pedigree, Phenotype, Sequence Analysis, DNA, Syndrome
DOI10.1111/cge.12088
Alternate JournalClin. Genet.
PubMed ID23320496
PubMed Central IDPMC4191904
Grant ListRC2 NS070477 / NS / NINDS NIH HHS / United States
U54 HG006504 / HG / NHGRI NIH HHS / United States
U54HG006504 / HG / NHGRI NIH HHS / United States