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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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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Salih, Anas, Inoue, Susumu, Onwuzurike, Nkechi
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2018
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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