MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects

Intellectual disability (ID) is one of the most common reasons for referral to genetic counseling. Nevertheless, in over 50% of the cases no diagnosis can be made. Here, we present how exome sequencing in combination with medical genetics evaluation led to the identification of a known pathogenic ho...

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Bibliografiske detaljer
Udgivet i:Mol Syndromol
Main Authors: Hoffjan, Sabine, Epplen, Jörg T., Reis, André, Abou Jamra, Rami
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2015
Fag:
Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4521065/
https://ncbi.nlm.nih.gov/pubmed/26279649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000371399
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