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.

Autor: Yadegari F; Genetics Department Breast Cancer Research Center, Motamed Cancer Institute, ACECR Tehran Iran., Abed AR; Warith International Cancer Institute Karbala Iraq., Abd Ali WY; Warith International Cancer Institute Karbala Iraq., Al-Abedi HH; Warith International Cancer Institute Karbala Iraq., Zarinfam S; Genetics Department Breast Cancer Research Center, Motamed Cancer Institute, ACECR Tehran Iran., Aminian S; Genetics Department Breast Cancer Research Center, Motamed Cancer Institute, ACECR Tehran Iran., Majidzadeh-A K; Genetics Department Breast Cancer Research Center, Motamed Cancer Institute, ACECR Tehran Iran.

Publikováno v: Clinical case reports [Clin Case Rep] 2024 Jul 24; Vol. 12 (8), pp. e9176. Date of Electronic Publication: 2024 Jul 24 (Print Publication: 2024).