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

Abstract 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...

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Hlavní autoři: Shuchen Gu (Autor), Yimin Khoong (Autor), Xin Huang (Autor), Tao Zan (Autor)
Médium: Kniha
Vydáno: BMC, 2021-01-01T00:00:00Z.
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