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

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 fa...

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Detalles Bibliográficos
Autores principales: Gu, Shuchen, Khoong, Yimin, Huang, Xin, Zan, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818766/
https://www.ncbi.nlm.nih.gov/pubmed/33478401
http://dx.doi.org/10.1186/s12887-021-02506-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818766/
https://www.ncbi.nlm.nih.gov/pubmed/33478401
http://dx.doi.org/10.1186/s12887-021-02506-5

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