A family with nine siblings showing signs of Rothmund-Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N-terminal mutation of RECQL4
一个九口之家，兄弟姐妹均表现出罗特蒙德-汤姆森综合征的症状，其中两人因RECQL4基因N端纯合突变而被确诊患有该综合征。
期刊:Clinical Case Reports
影响因子:0.6
doi:10.1002/ccr3.9176
Yadegari, Fatemeh; Abed, Aseel Rashid; Abd Ali, Widad Yadallah; Al-Abedi, Haider Hamza; Zarinfam, Shiva; Aminian, Solaleh; Majidzadeh-A, Keivan
