[HTML][HTML] Glycosylation Modulates the Structure and Functions of Collagen: A Review
I Tvaroška - Molecules, 2024 - mdpi.com
Collagens are fundamental constituents of the extracellular matrix and are the most
abundant proteins in mammals. Collagens belong to the family of fibrous or fiber-forming …
abundant proteins in mammals. Collagens belong to the family of fibrous or fiber-forming …
Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage
JL Sandy, D Perez, S Goh, J Forsey… - American Journal of …, 2023 - Wiley Online Library
Bruck syndrome is a rare collagen disorder with autosomal recessive inheritance caused by
pathogenic variants in either FKBP10 or PLOD2 genes. It is characterized by bone fragility …
pathogenic variants in either FKBP10 or PLOD2 genes. It is characterized by bone fragility …
[HTML][HTML] Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant
R Wang, D Ruan, Y Hu, Y Gan, X Lin, Z Fang… - Frontiers in …, 2022 - frontiersin.org
Background: Bruck syndrome (BS) is a rare autosomal recessive inherited osteogenesis
imperfecta disease characterized by increased bone fragility and joint contracture. The …
imperfecta disease characterized by increased bone fragility and joint contracture. The …
Mutation in FKBP10 Gene Cause Bruck Syndrome 1 (BRKS1) in a Pakistani Family of Pashtun Origin
U Tauseef, M Ibrahim, N Noor… - Journal of Ayub Medical …, 2023 - jamc-ayubmed.com
Background: Bruck syndrome or BRKS1 is an extremely rare condition characterized by the
onset of fractures in infancy, joint contractures, short stature, severe limb deformity, and …
onset of fractures in infancy, joint contractures, short stature, severe limb deformity, and …
Bruck syndrome: A rare case presentation with isolated lower extremity contractures and multiple postoperative peri-implant fractures
G Jain, R Datt, V Sharma, K Farooque… - Indian Journal of …, 2021 - mansapublishers.com
Bruck syndrome, characterized by congenital brittle bones and multiple joint contractures, is
a rare variant of osteogenesis imperfecta. Here, we report the case of a 7-year-old male …
a rare variant of osteogenesis imperfecta. Here, we report the case of a 7-year-old male …
[HTML][HTML] Arthrogryposis multiplex congenita in a child with congenital fractures: a case report
K Dayasiri, H Jayaweera - Journal of Medical Case Reports, 2022 - Springer
Background Bruck syndrome is an exceedingly rare form of osteogenesis imperfecta,
inherited autosomal recessively and presenting with the concurrence of bone fragility and …
inherited autosomal recessively and presenting with the concurrence of bone fragility and …
Phenotypic variability in children with Bruck syndrome type 2: Clinical cases
SI Trofimova, EA Kochenova… - Pediatric …, 2023 - journals.eco-vector.com
BACKGROUND: Bruck syndrome is a rare disorder that features osteogenesis imperfecta,
combined with severe congenital joint contractures often with pterygia, short stature, severe …
combined with severe congenital joint contractures often with pterygia, short stature, severe …
You are here: Home/Vol 7| Issue 3| September-December 2021/Bruck Syndrome (Bone Fragility with Congenital Joint Contractures): A Case... Bruck Syndrome (Bone …
DA Pinto, SV Vaidya - ijpoonline.com
Background: Bruck syndrome is a disorder in which features of osteogenesis imperfecta and
arthrogryposis multiplex congenita coexist. It is an extremely rare condition with less than 40 …
arthrogryposis multiplex congenita coexist. It is an extremely rare condition with less than 40 …
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A Desai, A Ranade, MV Belthur, S Patwardhan… - ijpoonline.com
Pyomyositis in children is an uncommon bacterial infection of skeletal muscles which has
more frequently been described in tropical areas, but it is becoming increasingly recognized …
more frequently been described in tropical areas, but it is becoming increasingly recognized …
Zespół Brucka–opis pierwszego polskiego niemowlęcia z mutacją w genie FKBP10.
A Byrwa, E Łuczak, I Górzyńska… - … & Family Medicine), 2023 - search.ebscohost.com
Wprowadzenie: Zespół Brucka jest bardzo rzadką chorobą genetyczną łączącą cechy
wrodzonej łamliwości kości i artrogrypozy. Charakteryzuje się m. in.: osteoporozą …
wrodzonej łamliwości kości i artrogrypozy. Charakteryzuje się m. in.: osteoporozą …