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Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

Auriculocondylar syndrome (ACS) is an ultra-rare disorder that arises from developmental defects of the first and second pharyngeal arches. Three subtypes of ACS have been described so far, i.e., ACS1 (MIM: 602483), ACS2 (MIM: 600810), and ACS3 (MIM: 131240). The majority of patients, however, are a...

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Dades bibliogràfiques
Publicat a:J Appl Genet
Autors principals: Bukowska-Olech, Ewelina, Sowińska-Seidler, Anna, Łojek, Filip, Popiel, Delfina, Walczak-Sztulpa, Joanna, Jamsheer, Aleksander
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7822771/
https://ncbi.nlm.nih.gov/pubmed/33131036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-020-00591-3
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