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

Clin Genet. 2013 Oct;84(4):394-5. doi: 10.1111/cge.12088. Epub 2013 Feb 20.

Authors

A O Caglayan¹, H Per, G Akgumus, H Gumus, J Baranoski, M Canpolat, M Calik, A Yikilmaz, K Bilguvar, S Kumandas, M Gunel

Affiliation

¹ Department of Neurosurgery; Department of Neurobiology; Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA; Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.

No abstract available

Publication types

Case Reports
Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / diagnosis*
Abnormalities, Multiple / genetics*
Base Sequence
Calcium Channels
Child
Consanguinity
Exome*
Humans
Male
Membrane Proteins / genetics*
Pedigree
Phenotype*
Sequence Analysis, DNA
Syndrome

Substances

Calcium Channels
Membrane Proteins
TMCO1 protein, human

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