Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome.
Bone
; 52(1): 366-71, 2013 Jan.
Article
en En
| MEDLINE
| ID: mdl-23117206
ABSTRACT
Hajdu-Cheney syndrome (HCS) is a rare genetic disorder characterised by acro-osteolysis, skull deformation and generalised osteoporosis. Recently, truncating mutations in the last exon of NOTCH2, a protein-coding gene, were found to be responsible. We present the case of a young woman with HCS in whom clinical and radiologic diagnosis was confirmed with DNA tests.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Osteoporosis
/
Síndrome de Hajdu-Cheney
/
Receptor Notch2
/
Mutación
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Bone
Asunto de la revista:
METABOLISMO
/
ORTOPEDIA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Grecia