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Bone Aneurysmal Cysts and Pathologic Fracture Associated with Supernumerary Ring Chromosome 6 in Two Unrelated Patients

Small supernumerary ring chromosome 6 (sSRC(6)) is a rare chromosomal abnormality characterized by a broad clinical phenotype. The spectrum of this disorder can range from phenotypically normal to severe developmental delay and congenital anomalies. We describe two unrelated patients with small SRCs...

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Dades bibliogràfiques
Publicat a:Am J Med Genet A
Autors principals: Hurd, Lauren M., Thacker, Mihir, Okenfuss, Ericka, Duker, Angela L., Lou, Yang, Harty, Mary, Conard, Katrina, Lian, Jane B., Bober, Michael B.
Format: Artigo
Idioma:Inglês
Publicat: 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5687301/
https://ncbi.nlm.nih.gov/pubmed/29080333
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38498
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