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Article

Mosaicism in osteopathia striata with cranial sclerosis.

The Journal of clinical endocrinology and metabolism - 1 Apr 2010

Joseph Dennis J, Ichikawa Shoji, Econs Michael J

Abstract excerpt

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 underlying genetic cause in a 37-yr-old male with this condition. DESIGN: DNA sequencing of peripheral blood and hair...

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Identifiers

PMID: 20150574
DOI: 10.1210/jc.2009-2343
PMCID: PMC2853980

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Source receipt: pubmed, retrieved 7 Sept 2026.

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