authors
- Caglayan, AO
- Per, H
- Akgumus, G
- Gumus, H
- Baranoski, J
- Canpolat, M
- Calik, M
- Yikilmaz, Ali
- Bilguvar, K
- Kumandas, S
- Gunel, M
Whole‐exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum
Journal Articles
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Overview
status
publication date
- October 2013
has subject area
- 0604 Genetics (FoR)
- 1103 Clinical Sciences (FoR)
- Abnormalities, Multiple (MeSH)
- Base Sequence (MeSH)
- Calcium Channels (MeSH)
- Child (MeSH)
- Consanguinity (MeSH)
- Exome (MeSH)
- Genetics & Heredity (Science Metrix)
- Humans (MeSH)
- Male (MeSH)
- Membrane Proteins (MeSH)
- Pedigree (MeSH)
- Phenotype (MeSH)
- Sequence Analysis, DNA (MeSH)
- Syndrome (MeSH)
published in
- Clinical Genetics Journal