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Hajdu-Cheney Syndrome: A case report with review of literature

Hajdu-Cheney syndrome is a very rare connective tissue disorder. It has autosomal dominant inheritance or may occur due to spontaneous de novo mutation. Recent research suggests that it is caused by heterozygous mutation of terminal exon of NOTCH 2. Most characteristic findings include transverse ba...

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Detalles Bibliográficos
Publicado en:J Radiol Case Rep
Main Authors: Palav, Shailesh, Vernekar, Jeevan, Pereira, Sweta, Desai, Ankush
Formato: Artigo
Idioma:Inglês
Publicado: EduRad 2014
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4242121/
https://ncbi.nlm.nih.gov/pubmed/25426244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3941/jrcr.v8i9.1833
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