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6p21.2–p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay

Chih‐Ping Chen, Hsiang‐Yu Lin, Yupeng Liu, Schu‐Rern Chern, Peih-Shan Wu, Yuting Chen, Jun-Wei Su, Chen‐Chi Lee, Wayseen Wang

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Key concepts: Haploinsufficiency, Cleidocranial Dysplasia, Biology, Genetics, Phenotype, Genotype-phenotype distinction, Dysplasia, Gene

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6p21.2–p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay — Research Paper | ScholarLens