{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T19:48:10Z","timestamp":1771012090516,"version":"3.50.1"},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>Temple-Baraitser syndrome (TMBTS; OMIM: 611816) is a rare developmental disorder characterized by severe mental retardation and anomalies of thumb and great toe with absence\/hypoplasia of the nails. Here, we report an additional patient with TMBTS, review clinical and radiological features of previously reported cases and discuss mode of inheritance. The patient exhibited a pattern of anomalies: mild dysmorphic facial features with a wide open mouth, a thick vermilion border of the upper lip and downturned corners of the mouth; nails were absent on both great toes and thumb. Electroencephalogram showed a diffusely slow background. Whole genome sequencing identified one pathogenic missense mutation in <jats:italic toggle=\"yes\">KCNH1<\/jats:italic> (c. 1529 A &gt; C; Asn510Thr) in this TMBTS patient. The mutation was also validated by Sanger sequencing.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000345","type":"journal-article","created":{"date-parts":[[2020,9,20]],"date-time":"2020-09-20T11:18:56Z","timestamp":1600600736000},"page":"27-31","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":6,"title":["Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report"],"prefix":"10.1097","volume":"30","author":[{"given":"Hui","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Shengli Oil Field Central Hospital, Dongying, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shengli Oil Field Central Hospital, Dongying, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongfang","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shengli Oil Field Central Hospital, Dongying, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2020,9,17]]},"reference":[{"key":"R1-20250524","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1038\/488439a","article-title":"Fathers bequeath more mutations as they age.","volume":"488","author":"Callaway","year":"2012","journal-title":"Nature"},{"key":"R2-20250524","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/jhg.2016.1","article-title":"De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.","volume":"61","author":"Fukai","year":"2016","journal-title":"J Hum Genet"},{"key":"R3-20250524","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1002\/ajmg.a.32129","article-title":"A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser 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