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Mosaicism in Osteopathia Striata with Cranial Sclerosis

Context: Osteopathia striata with cranial sclerosis is an X-linked dominant condition caused by mutations in the WTX gene, resulting in linear striations in long bones in combination with cranial sclerosis. This condition is usually lethal in males. Objective/Patient: Our aim was to determine the un...

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Autori principali: Joseph, Dennis J., Ichikawa, Shoji, Econs, Michael J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Endocrine Society 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2853980/
https://ncbi.nlm.nih.gov/pubmed/20150574
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-2343
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