Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report.

Wang, Hui; Zhang, Xiaohua; Ding, Hongfang

Wang, Hui; Zhang, Xiaohua; Ding, Hongfang.

Affiliation

Wang H; Department of Pediatrics, Shengli Oil Field Central Hospital, Dongying, China.

Clin Dysmorphol ; 30(1): 27-31, 2021 Jan.

Article in En | MEDLINE | ID: mdl-32956079

Subject(s)

Alleles; Amino Acid Substitution; Ether-A-Go-Go Potassium Channels/genetics; Genetic Association Studies; Genetic Predisposition to Disease; Hallux/abnormalities; Intellectual Disability/diagnosis; Intellectual Disability/genetics; Mutation; Nails, Malformed/diagnosis; Nails, Malformed/genetics; Thumb/abnormalities; Electroencephalography; Humans; Mutation, Missense; Phenotype; Sequence Analysis, DNA; Exome Sequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thumb / Hallux / Amino Acid Substitution / Genetic Predisposition to Disease / Alleles / Ether-A-Go-Go Potassium Channels / Genetic Association Studies / Intellectual Disability / Mutation / Nails, Malformed Type of study: Prognostic_studies Limits: Humans Language: En Journal: Clin Dysmorphol Journal subject: TERATOLOGIA Year: 2021 Document type: Article Affiliation country: China Country of publication: United kingdom

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