3.
患儿家系ALPL基因测序结果
患儿ALPL基因存在c.228delG（A）和c.407G > A (B) 的复合突变；患儿父亲为c.407G > A突变携带者；母亲及姨母为c.228delG突变携带者；患儿姐姐、叔父的两突变位点均正常。突变位点如箭头所示。
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