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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Bibliografiske detaljer
Udgivet i:BMJ Case Rep
Main Authors: Mohtisham, Farzeen Shuaib, Sallam, Adel, Shawli, Aiman
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2019
Fag:
Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect
Online adgang: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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