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A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.
Clinical Dysmorphology ( IF 0.4 ) Pub Date : 2020-01-09 , DOI: 10.1097/mcd.0000000000000314 Dulika S Sumathipala 1 , Doriana Misceo 1 , Selma Mujezinovic Larsen 2 , Tuva Barøy 1 , Thilini H Gamage 1 , Eirik Frengen 1 , Petter Strømme 2, 3
中文翻译:
一个患有神经发育综合症的女孩,由于DEAF1的新的纯合变异而导致拇指内收和频繁感染。
更新日期:2020-01-09
Clinical Dysmorphology ( IF 0.4 ) Pub Date : 2020-01-09 , DOI: 10.1097/mcd.0000000000000314 Dulika S Sumathipala 1 , Doriana Misceo 1 , Selma Mujezinovic Larsen 2 , Tuva Barøy 1 , Thilini H Gamage 1 , Eirik Frengen 1 , Petter Strømme 2, 3
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中文翻译:
一个患有神经发育综合症的女孩,由于DEAF1的新的纯合变异而导致拇指内收和频繁感染。