ABGC Board Exam
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ABGC Board Exam (Genetic Counseling) Questions and Answers
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ABGC Board Exam (Genetic Counseling) Osteogenesis imperfecta - Answer-Genes: COL1A1 (ch17; more severe pheno w/mutn b/c there are 2 alpha strands vs. 1 beta strand), COL1A2 (ch7), form protein triple helix Type I -- AD, mild, blue sclera, brittle bones, no deformity collagen: normal quality, AMOUNT is reduced Type II: AD, neonatal lethal, abnormal collagen Type III: AD, progressive deforming, fractures at birth, small, blue sclera Type IV: AD, normal sclera, mild/mod bone deformity, shor...
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