Expansion of the TARP Syndrome Phenotype Associated with De Novo Mutations and Mosaicism

The TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava) is an X-linked disorder that was determined to be caused by mutations in RBM10 in two families, and confirmed in a subsequent case report. The first two original families were quite...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Johnston, Jennifer J., Sapp, Julie C., Curry, Cynthia, Horton, Margaret, Leon, Eyby, Cusmano-Ozog, Kristina, Dobyns, William B., Hudgins, Louanne, Zackai, Elaine, Biesecker, Leslie G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4443488/
https://ncbi.nlm.nih.gov/pubmed/24259342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36212
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