A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes...

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Dades bibliogràfiques
Autors principals: Farra, Chantal, Yunis, Khaled, Yazbeck, Nadine, Majdalani, Marianne, Charafeddine, Lama, Wakim, Rima, Awwad, Johnny
Format: Artigo
Idioma:Inglês
Publicat: Dove Medical Press 2011
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3681181/
https://ncbi.nlm.nih.gov/pubmed/23776370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S12643
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