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2. Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage. Sandy JL; Perez D; Goh S; Forsey J; Rajagopalan S; Trivedi A; Munns CF Am J Med Genet A; 2023 Jan; 191(1):265-270. PubMed ID: 36282022 [TBL] [Abstract][Full Text] [Related]
3. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. Kelley BP; Malfait F; Bonafe L; Baldridge D; Homan E; Symoens S; Willaert A; Elcioglu N; Van Maldergem L; Verellen-Dumoulin C; Gillerot Y; Napierala D; Krakow D; Beighton P; Superti-Furga A; De Paepe A; Lee B J Bone Miner Res; 2011 Mar; 26(3):666-72. PubMed ID: 20839288 [TBL] [Abstract][Full Text] [Related]
4. A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient. Setijowati ED; van Dijk FS; Cobben JM; van Rijn RR; Sistermans EA; Faradz SM; Kawiyana S; Pals G Eur J Med Genet; 2012 Jan; 55(1):17-21. PubMed ID: 22085994 [TBL] [Abstract][Full Text] [Related]
5. Novel Mutations in PLOD2 Cause Rare Bruck Syndrome. Lv F; Xu X; Song Y; Li L; Asan ; Wang J; Yang H; Wang O; Jiang Y; Xia W; Xing X; Li M Calcif Tissue Int; 2018 Mar; 102(3):296-309. PubMed ID: 29177700 [TBL] [Abstract][Full Text] [Related]
6. 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 Am J Med Genet A; 2022 Jun; 188(6):1815-1825. PubMed ID: 35278031 [TBL] [Abstract][Full Text] [Related]
8. Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation. Moravej H; Karamifar H; Karamizadeh Z; Amirhakimi G; Atashi S; Nasirabadi S Endokrynol Pol; 2015; 66(2):170-4. PubMed ID: 25931047 [TBL] [Abstract][Full Text] [Related]
9. Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. Leal GF; Nishimura G; Voss U; Bertola DR; Åström E; Svensson J; Yamamoto GL; Hammarsjö A; Horemuzova E; Papadiogannakis N; Iwarsson E; Grigelioniene G; Tham E J Bone Miner Res; 2018 Apr; 33(4):753-760. PubMed ID: 29178448 [TBL] [Abstract][Full Text] [Related]
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14. Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome. Gistelinck C; Witten PE; Huysseune A; Symoens S; Malfait F; Larionova D; Simoens P; Dierick M; Van Hoorebeke L; De Paepe A; Kwon RY; Weis M; Eyre DR; Willaert A; Coucke PJ J Bone Miner Res; 2016 Nov; 31(11):1930-1942. PubMed ID: 27541483 [TBL] [Abstract][Full Text] [Related]
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16. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Ha-Vinh R; Alanay Y; Bank RA; Campos-Xavier AB; Zankl A; Superti-Furga A; Bonafé L Am J Med Genet A; 2004 Dec; 131(2):115-20. PubMed ID: 15523624 [TBL] [Abstract][Full Text] [Related]
17. Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures. Breslau-Siderius EJ; Engelbert RH; Pals G; van der Sluijs JA J Pediatr Orthop B; 1998 Jan; 7(1):35-8. PubMed ID: 9481655 [TBL] [Abstract][Full Text] [Related]