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Tc-99m MDP Bone SPECT/CT Findings of a Patient Detected with a New Mutation in LEMD3 Gene: A Case of Osteopoikilosis

Osteopoikilosis is an inherited condition with autosomal dominant trait resulting in sclerotic foci throughout the skeleton. It has been suggested that loss-of-function mutations of LEMD3 gene located on 12q14.3 result in osetopoikilosis. A bp heterozygote deletion was detected in our patient at the...

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Detalles Bibliográficos
Autores principales: Silov, Güler, Erdoğan, Zeynep, Erdoğan, Murat, Özdal, Ayşegül, Gençer, Hümeyra, Akalın, Tayfun, Karaçavuş, Seyhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790975/
https://www.ncbi.nlm.nih.gov/pubmed/29393055
http://dx.doi.org/10.4274/mirt.25743