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Long Term Survival in TARP Syndrome and Confirmation of RBM10 as the Disease Causing Gene

TARP syndrome, comprising Talipes equinovarus, Atrial septal defect, Robin sequence (micrognathia, glossoptosis, and cleft palate), and Persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males. Based on linkage studies and massively para...

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Detalhes bibliográficos
Main Authors: Gripp, Karen W., Hopkins, Elizabeth, Johnston, Jennifer J., Krause, Caitlin, Dobyns, William B., Biesecker, Leslie G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3183328/
https://ncbi.nlm.nih.gov/pubmed/21910224
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34190
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