MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features

MOTA syndrome, the acronym for Manitoba-oculo-tricho-anal syndrome (OMIM 248450), is a distinct autosomal recessive multiple malformation syndrome caused by mutations in the FREM1 gene (OMIM 608944). Eight patients with MOTA syndrome and a pathogenic FREM1 mutation have previously been documented. W...

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Autori principali: Mitter, D., Schanze, D., Sterker, I., Müller, D., Till, H., Zenker, M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger AG 2012
Soggetti:
Short Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3473350/
https://ncbi.nlm.nih.gov/pubmed/23112756
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000341501
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