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

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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Bibliographic Details
Main Authors: Domenico Roberti, Renata Conforti, Teresa Giugliano, Barbara Brogna, Immacolata Tartaglione, Maddalena Casale, Giulio Piluso, Silverio Perrotta
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-11-01
Series:Frontiers in Genetics
Subjects:
Diamond Blackfan anemia
Pierre Robin sequence
Klippel feil syndrome
musculoskeletal system development
craniofacial syndromes
craniocervical junction
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00549/full

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https://www.frontiersin.org/article/10.3389/fgene.2018.00549/full

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