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Article

Facial cleft? The first case of manitoba-oculo-tricho-anal syndrome with novel mutations in China: a case report.

BMC pediatrics - 21 Jan 2021

Gu Shuchen, Khoong Yimin, Huang Xin, Zan Tao

Abstract excerpt

BACKGROUND: Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare syndrome with only 27 cases reported worldwide so far, but none was reported in the population of Eastern Asia. Such extremely low prevalence might be contributed by misdiagnosis due to its similarities in ocular manifestations with facial cleft. In our study, we discovered the first case of MOTA syndrome in the population of China, with 2 novel...

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PMID: 33478401
DOI: 10.1186/s12887-021-02506-5
PMCID: PMC7818766

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