Domenico Roberti Renata Conforti Teresa Giugliano Barbara Brogna Immacolata Tartaglione Maddalena Casale Giulio Piluso Silverio Perrotta
10.3389/fgene.2018.00549
Front Genet
2018 Nov 19;9:549.
diamond blackfan anemia klippel feil syndrome pierre robin sequence craniocervical junction craniofacial syndromes craniometry musculoskeletal system development
CC BY
https://pubmed.ncbi.nlm.nih.gov/30524470/
Case Reports
PMC6262175
30524470
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity
2018