Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome

Gonenc, II; Elcioglu, NH; Grijalva, CM; Aras, S; Grossmann, N; Praulich, I; Altmuller, J; Kaulfuss, S; Li, Y; Nurnberg, P; Burfeind, P; Yigit, G; Wollnik, B

Wollnik, B (通讯作者),Univ Med Ctr Gottingen, Inst Human Genet, Heinrich Duker Weg 12, D-37073 Gottingen, Germany.

CLINICAL GENETICS, 2022; 101 (5-6): 559

Abstract

Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of primary microcephaly, growth deficiency, cancer predis......

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