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Article

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

Clinical genetics - 1 Oct 2013

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

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Topics

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Share to Abnormalities, Multiple
Share to Calcium Channels
Share to Consanguinity
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

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Share to Sequence Analysis, DNA

Share to Syndrome

Source

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Identifiers

PMID: 23320496
DOI: 10.1111/cge.12088
PMCID: PMC4191904

Genes

TMCO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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