First reported adult patient with TARP syndrome: A case report

TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistence of the left superior vena cava) is a rare X‐linked syndrome often resulting in pre‐ or post‐natal lethality in affected males. In 2010, RBM10 was identified as the disease‐causing gene, and we describe the firs...

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Detalles Bibliográficos
Autores principales: Højland, Allan T., Lolas, Ihab, Okkels, Henrik, Lautrup, Charlotte K., Diness, Birgitte R., Petersen, Michael B., Nielsen, Irene K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2018
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587983/
https://www.ncbi.nlm.nih.gov/pubmed/30462380
http://dx.doi.org/10.1002/ajmg.a.40638

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587983/
https://www.ncbi.nlm.nih.gov/pubmed/30462380
http://dx.doi.org/10.1002/ajmg.a.40638

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