Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum

Otaify, GA; Abdel-Hamid, MS; Hassib, NF; Elhossini, RM; Abdel-Ghafar, SF; Aglan, MS

Otaify, GA (通讯作者),Natl Res Ctr, Human Genet & Genome Res Inst, Dept Clin Genet, Tahrir St, Cairo 12622, Egypt.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (6): 1815

Abstract

Bruck Syndrome (BS) is a very rare disorder characterized by osteogenesis imperfecta (OI) associated with congenital contractures and is caused by mut......

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