Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

BACKGROUND: We report a consanguineous couple that has experienced three consecutive pregnancy losses following the foetal ultrasound finding of short limbs. Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildl...

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Bibliografische gegevens
Gepubliceerd in:BMC Genomics
Hoofdauteurs: Marshall, Christian R, Farrell, Sandra A, Cushing, Donna, Paton, Tara, Stockley, Tracy L, Stavropoulos, Dimitri J, Ray, Peter N, Szego, Michael, Lau, Lynette, Pereira, Sergio L, Cohn, Ronald D, Wintle, Richard F, Abuzenadah, Adel M, Abu-Elmagd, Muhammad, Scherer, Stephen W
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2015
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Research
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4315153/
https://ncbi.nlm.nih.gov/pubmed/25923536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-16-S1-S12
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