Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin.

Journal of Ayub Medical College, Abbottabad : JAMC - 1 Jan 2000

Tauseef Usman, Ibrahim Mohsina, Noor Noshaba, Hanif Misbah

Abstract excerpt

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 progressive scoliosis. 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. Our first case is a seven years old boy...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arthrogryposis
Share to Child
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Osteogenesis Imperfecta

Share to Pakistan

Share to Polydactyly

Share to Tacrolimus Binding Proteins

Source

Identifiers

PMID: 37422836
DOI: 10.55519/JAMC-02-11056

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin.PMID 37422836Read ↗

Clinical and genetic landscape of Bruck syndrome in the Indian populationSemantic proximity Read ↗

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

Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.Semantic proximity Read ↗

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

Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.Semantic proximity Read ↗

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.Semantic proximity Read ↗

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.Semantic proximity Read ↗

Presentation of Rare Phenotypes Associated with the FKBP10 Gene.Semantic proximity Read ↗

Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.Semantic proximity Read ↗

Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.Semantic proximity Read ↗

New insights on the clinical variability of FKBP10 mutations.Semantic proximity Read ↗

RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.