Lethal multiple pterygium syndrome

Multiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpi...

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Dades bibliogràfiques
Publicat a:BMJ Case Rep
Autors principals: Mohtisham, Farzeen Shuaib, Sallam, Adel, Shawli, Aiman
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2019
Matèries:
Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6506140/
https://ncbi.nlm.nih.gov/pubmed/31068350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-229045
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