Hajdu-Cheney Syndrome: A Systematic Review of the Literature.
Hajdu–Cheney syndrome
NOTCH2
acroosteolysis
connective tissue
rare diseases
receptor
Journal
International journal of environmental research and public health
ISSN: 1660-4601
Titre abrégé: Int J Environ Res Public Health
Pays: Switzerland
ID NLM: 101238455
Informations de publication
Date de publication:
25 08 2020
25 08 2020
Historique:
received:
26
07
2020
revised:
18
08
2020
accepted:
22
08
2020
entrez:
29
8
2020
pubmed:
29
8
2020
medline:
24
11
2020
Statut:
epublish
Résumé
Hajdu-Cheney syndrome (HCS) is a rare genetic disease that causes acroosteolysis and generalized osteoporosis, accompanied by a series of developmental skeletal disorders and multiple clinical and radiological manifestations. It has an autosomal dominant inheritance, although there are several sporadic non-hereditary cases. The gene that has been associated with Hajdu-Cheney syndrome is
Identifiants
pubmed: 32854429
pii: ijerph17176174
doi: 10.3390/ijerph17176174
pmc: PMC7504254
pii:
doi:
Substances chimiques
NOTCH2 protein, human
0
Receptor, Notch2
0
Types de publication
Journal Article
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
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