Severe Cleidocranial dysplasia and Hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia due to mutations causing haploinsufficiency of RUNX2, an osteoblast transcription factor specific for bone and cartilage. The classic form of CCD is characterized by delayed closure of the fontanels, hypoplastic or aplasti...

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Hlavní autoři: El-Gharbawy, Areeg H., Peeden, Joseph N., Lachman, Ralph S., Graham, John M., Moore, Stephen R., Rimoin, David L.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2799546/
https://ncbi.nlm.nih.gov/pubmed/20014132
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33146
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