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Article

A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum.

European journal of medical genetics - 1 Apr 2020

Zhang Ting, Wu Qian, Zhu Ling, Wu Dingwen, Yang Rulai, Qi Ming, Huang Xinwen

Abstract excerpt

Only eleven SPECC1L mutations have been reported worldwide which were associated with autosomal dominant oblique facial clefts, Opitz G/BBB Syndrome and Teebi hypertelorism syndrome. In this study, we reported the first Chinese patient with Teebi hypertelorism syndrome. Utilizing whole exome sequencing and Sanger sequencing, we identified a de novo missense mutation NM_015330.3: c.1249A > C, p.(Thr417Pro) in...

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Identifiers

PMID: 31953237
DOI: 10.1016/j.ejmg.2020.103851

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