Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review

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 delayed dia...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:BMC Musculoskelet Disord
Päätekijät: Zeng, Chunhua, Lin, Yunting, Lu, Zhikun, Chen, Zhen, Jiang, Xiaoling, Mao, Xiaojian, Liu, Zongcai, Lu, Xinshuo, Zhang, Kangdi, Yu, Qiaoli, Wang, Xiaoya, Huang, Yonglan, Liu, Li
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2020
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7060511/
https://ncbi.nlm.nih.gov/pubmed/32143606
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12891-020-3181-0
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