Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review
Abstract Background Hajdu-Cheney syndrome (HCS) is a rare inherited skeletal disorder caused by pathogenic mutations in exon 34 of NOTCH2. Its highly variable phenotypes make early diagnosis challenging. In this paper, we report a case of early-onset HCS with severe phenotypic manifestations but del...
Main Authors: | , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-03-01
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Series: | BMC Musculoskeletal Disorders |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12891-020-3181-0 |