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Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.
Clinical dysmorphology Pub Date : 2022-01-01 , DOI: 10.1097/mcd.0000000000000389 Ayberk Türkyilmaz 1 , Safiye Gunes Sager 2 , Bahtisen Topcu 3 , Aysin Tuba Kaplan 4 , Hediye Pinar Günbey 5 , Yasemin Akin 6
中文翻译:
通过全外显子组测序在一名患有 Frank-Ter Haar 综合征的土耳其新生儿中鉴定出新的 SH3PXD2B 变异。
更新日期:2021-09-17
Clinical dysmorphology Pub Date : 2022-01-01 , DOI: 10.1097/mcd.0000000000000389 Ayberk Türkyilmaz 1 , Safiye Gunes Sager 2 , Bahtisen Topcu 3 , Aysin Tuba Kaplan 4 , Hediye Pinar Günbey 5 , Yasemin Akin 6
Affiliation
中文翻译:
通过全外显子组测序在一名患有 Frank-Ter Haar 综合征的土耳其新生儿中鉴定出新的 SH3PXD2B 变异。