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X-linked chronic granulomatous disease secondary to skewed X-chromosome inactivation in female patients.
Clin Exp Immunol. 2024 Feb 19;215(3):261-267. doi: 10.1093/cei/uxad129.
Clin Exp Immunol. 2024.
PMID: 38066563
Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review.
Ma J, Mo W, Sun J, Li Y, Han T, Mao H.
Ma J, et al.
BMC Musculoskelet Disord. 2023 Mar 31;24(1):247. doi: 10.1186/s12891-023-06371-4.
BMC Musculoskelet Disord. 2023.
PMID: 37003989
Free PMC article.
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