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Primary Carnitine Deficiency.
El-Hattab AW, Almannai M.
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Schaaf CP, Marbach F.
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Prader-Willi Syndrome.
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1998 Oct 6 [updated 2026 Feb 19]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
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CDK13-Related Disorder.
Bostwick B.
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COL1A1COL1A2-Related Osteogenesis Imperfecta.
Rodriguez Celin M, Steiner RD, Basel D.
2005 Jan 28 [updated 2025 May 29]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.