A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.

Dulika S Sumathipala,Doriana Misceo,Selma Mujezinovic Larsen,Tuva Barøy,Thilini H Gamage,Eirik Frengen,Petter Strømme

CLINICAL DYSMORPHOLOGY（2020）

引用 2|浏览15

暂无评分

摘要

Sumathipala, Dulika S.a,,*; Misceo, Dorianaa,,*; Larsen, Selma Mujezinovicb; Barøy, Tuvaa; Gamage, Thilini H.a; Frengen, Eirika; Strømme, Petterb,,c Author Information

查看译文

关键词

neurodevelopmental syndrome,deaf1,novel homozygous variant,infections

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要