A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference12 articles.
1. Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case;McPherson;Am. J. Med. Genet.,1997
2. Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome);Viljoen;Clin. Genet.,1989
3. Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis;van der Slot;J. Biol. Chem.,2003
4. Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures;Breslau-Siderius;J. Pediatr. Orthop. B,1998
5. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17;Bank;Proc. Natl. Acad. Sci. U. S. A.,1999
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1. Presentation of Rare Phenotypes Associated with the FKBP10 Gene;Genes;2024-05-23
2. Bruck syndrome – description of the first Polish infant with FKBP10 gene mutation;Pediatria i Medycyna Rodzinna;2023-06-30
3. Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants;Calcified Tissue International;2021-06-25
4. Collagen transport and related pathways in Osteogenesis Imperfecta;Human Genetics;2021-06-24
5. Orthopedic Manifestations of Bruck Syndrome: A Case Series with Intermediate to Long-term Follow-Up;Case Reports in Orthopedics;2019-03-13
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