title: Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.
authors: 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.
authors: A O
authors: AO
authors: Caglayan
authors: H
authors: H
authors: Per
authors: G
authors: G
authors: Akgumus
authors: H
authors: H
authors: Gumus
authors: J
authors: J
authors: Baranoski
authors: M
authors: M
authors: Canpolat
authors: M
authors: M
authors: Calik
authors: A
authors: A
authors: Yikilmaz
authors: K
authors: K
authors: Bilguvar
authors: S
authors: S
authors: Kumandas
authors: M
authors: M
authors: Gunel
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D001483:Base Sequence; D015220:Calcium Channels; D002648:Child; D003241:Consanguinity; D059472:Exome; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D013577:Syndrome
chemical_list: D015220:Calcium Channels; D008565:Membrane Proteins; C575495:TMCO1 protein, human