A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

Auriculocondylar syndrome (ACS) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic “question-mark” ear malformation. Careful phenotypic characterization of severely affected pr...

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Detalhes bibliográficos
Main Authors: Rieder, Mark J., Green, Glenn E., Park, Sarah S., Stamper, Brendan D., Gordon, Christopher T., Johnson, Jason M., Cunniff, Christopher M., Smith, Joshua D., Emery, Sarah B., Lyonnet, Stanislas, Amiel, Jeanne, Holder, Muriel, Heggie, Andrew A., Bamshad, Michael J., Nickerson, Deborah A., Cox, Timothy C., Hing, Anne V., Horst, Jeremy A., Cunningham, Michael L.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376493/
https://ncbi.nlm.nih.gov/pubmed/22560091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.04.002
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