نتایج جستجو برای: cartilage hair hypoplasia

تعداد نتایج: 77284  

Journal: :veterinary research forum 2015
rahim hobbenaghi bahram dalir-naghadeh ali nazarizadeh

a 5-day-old female holstein calf was necropsied because of lethargy, recumbency and anorexia. at necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. on microsc...

Journal: :Blood 2006
Johnson M Liu Steven R Ellis

Gene products mutated in the inherited bone marrow failure syndromes dyskeratosis congenita (DC), cartilage-hair hypoplasia (CHH), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) are all predicted to be involved in different aspects of ribosome synthesis. At this moment, however, it is unclear whether this link indicates a causal relationship. Although defective ribosome syn...

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