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Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin.
J Ayub Med Coll Abbottabad. 2023 Apr-Jun;35(2):341-347. doi: 10.55519/JAMC-02-11056.
J Ayub Med Coll Abbottabad. 2023.
PMID: 37422836
Free article.
Less than fifty cases of BRKS1 have been reported so far. Here, we report Bruck syndrome 1 in two siblings who belong to a consanguineous Pashtun family living in Karachi. ...
Less than fifty cases of BRKS1 have been reported so far. Here, we report Bruck syndrome 1 in two siblings who belong t …
Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.
Menezes AH, Traynelis VC.
Menezes AH, et al.
Childs Nerv Syst. 2022 Feb;38(2):361-377. doi: 10.1007/s00381-021-05409-z. Epub 2021 Nov 22.
Childs Nerv Syst. 2022.
PMID: 34806157
Review.
Thoracic outlet syndrome May-Thurner syndrome #7 OI Crown halo traction C3-5 corpectomies C2-6 Orion plate with iliac crest graft None Soft collar 4 years Fused 25 30 1 5 Restrictive lung disease. Multiple fractures Expired #8 OI - Bruck syndrome 1. Redo C1-2 …
Thoracic outlet syndrome May-Thurner syndrome #7 OI Crown halo traction C3-5 corpectomies C2-6 Orion plate with iliac crest graft None Soft …
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The first case of Bruck syndrome associated with gastroschisis.
Afşarlar ÇE, Peltek-Kendirci HN, Erdoğan D, Özgüner İF, Çavuşoğlu YH, Karaman A, Çetinkaya S.
Afşarlar ÇE, et al.
Turk J Pediatr. 2013 Nov-Dec;55(6):651-4.
Turk J Pediatr. 2013.
PMID: 24577988
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Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.
Steinlein OK, Aichinger E, Trucks H, Sander T.
Steinlein OK, et al.
BMC Med Genet. 2011 Nov 22;12:152. doi: 10.1186/1471-2350-12-152.
BMC Med Genet. 2011.
PMID: 22107750
Free PMC article.
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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.
Setijowati ED, et al.
Eur J Med Genet. 2012 Jan;55(1):17-21. doi: 10.1016/j.ejmg.2011.10.002. Epub 2011 Oct 24.
Eur J Med Genet. 2012.
PMID: 22085994
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