A novel frameshift mutation of DVL1 ‐induced Robinow syndrome: A case report and literature review

BACKGROUND: Robinow syndrome is a rare genetic disorder that affects the development of multiple systems. Due to its low prevalence and diversity of phenotypic presentation it has been challenging to definitively characterize features of Robinow syndrome. METHODS: We performed DNA extraction, whole‐...

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Detalles Bibliográficos
Autores principales: Hu, Ruolan, Qiu, Yu, Li, Yifei, Li, Jinrong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922971/
https://www.ncbi.nlm.nih.gov/pubmed/35137569
http://dx.doi.org/10.1002/mgg3.1886

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922971/
https://www.ncbi.nlm.nih.gov/pubmed/35137569
http://dx.doi.org/10.1002/mgg3.1886

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