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Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux.

DNA and cell biology(2022)

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关键词
acromesomelic dysplasia,type Maroteaux,Crouzon syndrome,FGFR2,NPR2,whole-exome sequencing
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