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Craniosynostosis‐microphthalmia syndrome belongs to the spectrum of BCOR ‐related disorders
Author(s) -
Cinnirella Giacomo,
Taylor Rachel L.,
Coco Claudio,
Piludu Francesca,
Vidiri Antonello,
Sinibaldi Lorenzo,
Kornak Uwe,
Black Graeme,
Brancati Francesco
Publication year - 2020
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13808
Subject(s) - craniosynostosis , microphthalmia , haploinsufficiency , craniosynostoses , medicine , genetics , biology , anatomy , phenotype , gene
Craniosynostosis‐microphthalmia linked to BCOR haploinsufficiency.