A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity

Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia with a highly heterogeneous genetic background; it usually occurs in infancy. Approximately 30–40% of patients have other associated congenital anomalies; in particular, facial anomalies, such as cleft palate, are part of about 10%...

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Publicat a:Front Genet
Autors principals: Roberti, Domenico, Conforti, Renata, Giugliano, Teresa, Brogna, Barbara, Tartaglione, Immacolata, Casale, Maddalena, Piluso, Giulio, Perrotta, Silverio
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2018
Matèries:
Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6262175/
https://ncbi.nlm.nih.gov/pubmed/30524470
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00549
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