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Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder with clinical features consisting of poikiloderma, skeletal abnormalities, sparse hair, absent or scanty eyelashes and eyebrows and short stature. Patients with RTS due to genetic mutations of RECQL4 genes carry a high risk of de...
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Publicado no: | BMJ Case Rep |
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Main Authors: | , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BMJ Publishing Group
2018
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5786930/ https://ncbi.nlm.nih.gov/pubmed/29367366 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-222384 |
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