De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with cranial, clavicular, and dental anomalies. It is caused by mutations in the RUNX2 gene, which encodes an osteoblast-specific transcription factor and maps to chromosome 6p21. We report clinical and molecular cy...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Purandare, Smita M, Mendoza-Londono, Roberto, Yatsenko, Svetlana A, Napierala, Dobrawa, Scott, Daryl A, Sibai, Tarek, Casas, Kari, Wilson, Patrick, Lee, Jiyun, Muneer, Razia, Leonard, Joe C, Ramji, Faridali G, Lachman, Ralph, Li, Shibo, Stankiewicz, Pawel, Lee, Brendan, Mulvihill, John J
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Wiley Subscription Services, Inc., A Wiley Company 2008
विषय:
Clinical Report
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC2663417/
https://ncbi.nlm.nih.gov/pubmed/18203189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.31750
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