4 在随后的研究中， 他们又提出牙源性角化囊肿的发生可能与 PTCH 基因的杂合突变（heterozygous mutations）60 有关。5 Grachtchouk 等的研究表明牙源性角化囊肿和 Hedgehog 信号失控有关。
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Heterozygous mutations were identified in 12 of 13 tumors.
13例肿瘤中有12例发现杂合子突变。
Conclusion The proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene.
结论SLC26A4基因的N392Y、S448X复合杂合突变是导致该先证者耳聋发生的原因。
Results a homozygous mutation at exon 13 of the proband was found by parallel TGGE. Homozygous and heterozygous mutations were also found in the family by parallel TGGE.
结果平行tgge发现，两患儿第13外显子存在一纯合突变，其父母此外显子存在杂合突变。
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