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

Zhang, T; Wu, Q; Zhu, L; Wu, DW; Yang, RL; Qi, M; Huang, XW

Huang, XW (corresponding author), Zhejiang Univ, Sch Med, Childrens Hosp, Dept Genet & Metab, 3333 Binsheng Rd, Hangzhou 310027, Peoples R China.

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020; 63 (4):

Abstract

Only eleven SPECC1L mutations have been reported worldwide which were associated with autosomal dominant oblique facial clefts, Opitz G/BBB Syndrome a......

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