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MUTATION IN FKBP10 GENE CAUSE BRUCK SYNDROME 1 (BRKS1) IN A PAKISTANI FAMILY OF PASHTUN ORIGIN

Journal of Ayub Medical College, Abbottabad, 2023-04, Vol.35 (2)

2023

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Molecular insights into prolyl and lysyl hydroxylation of fibrillar collagens in health and disease

Critical reviews in biochemistry and molecular biology, 2017-02, Vol.52 (1), p.74-95

2017

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A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

European journal of medical genetics, 2012-01, Vol.55 (1), p.17-21

2012

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

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1815-1825

2022

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Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome

Journal of bone and mineral research, 2016-11, Vol.31 (11), p.1930-1942

2016

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Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2

Proceedings of the National Academy of Sciences - PNAS, 2016-06, Vol.113 (26), p.7142-7147

2016

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Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2

Frontiers in genetics, 2021-02, Vol.12, p.619948

2021

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Bruck Syndrome: Beyond the Obvious

Fetal diagnosis and therapy, 2023-02, Vol.49 (11-12), p.479-485

2023

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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Journal of bone and mineral research, 2011-03, Vol.26 (3), p.666-672

2011

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Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

Human mutation, 2012-10, Vol.33 (10), p.1444-1449

2012

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A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report

Heliyon, 2024-04, Vol.10 (7), p.e28680, Article e28680

2024

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Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.265-270

2023

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Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix

Human mutation, 2012-11, Vol.33 (11), p.1589-1598

2012

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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, 2021-12, Vol.109 (6), p.633-644

2021

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Bruck Syndrome: A Rare Disorder in New-Born with Fractures and Contractures

Journal of Nepal Paediatric Society, 2018-09, Vol.37 (3), p.276-279

2018

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Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

Journal of bone and mineral research, 2018-04, Vol.33 (4), p.753-760

2018

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Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant

Frontiers in pediatrics, 2022-05, Vol.10, p.878172-878172

2022

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Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10 Mutations

Human mutation, 2013-09, Vol.34 (9), p.1279-1288

2013

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Presentation of Rare Phenotypes Associated with the FKBP10 Gene

Genes, 2024-05, Vol.15 (6), p.674

2024

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A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability

The Ochsner journal, 2020, Vol.20 (2), p.204-208

2020

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Novel Mutations in PLOD2 Cause Rare Bruck Syndrome

Calcified tissue international, 2018-03, Vol.102 (3), p.296-309

2018

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New insights on the clinical variability of FKBP10 mutations

European journal of medical genetics, 2020-09, Vol.63 (9), p.103980-103980, Article 103980

2020

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Arthrogryposis multiplex congenita in a child with congenital fractures: a case report

Journal of medical case reports, 2022-10, Vol.16 (1), p.1-376, Article 376

2022

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Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations

JBMR plus, 2021-03, Vol.5 (3), p.e10454-n/a

2021

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Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study

Osteoporosis international, 2016-01, Vol.27 (1), p.81-92

2016

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MUTATION IN FKBP10 GENE CAUSE BRUCK SYNDROME 1 (BRKS1) IN A PAKISTANI FAMILY OF PASHTUN ORIGIN

Molecular insights into prolyl and lysyl hydroxylation of fibrillar collagens in health and disease

A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

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

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome

Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2

Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2

Bruck Syndrome: Beyond the Obvious

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report

Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage

Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix

Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants

Bruck Syndrome: A Rare Disorder in New-Born with Fractures and Contractures

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant

Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10 Mutations

Presentation of Rare Phenotypes Associated with the FKBP10 Gene

A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability

Novel Mutations in PLOD2 Cause Rare Bruck Syndrome

New insights on the clinical variability of FKBP10 mutations

Arthrogryposis multiplex congenita in a child with congenital fractures: a case report

Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations

Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study

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