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Article

Bone health and SATB2-associated syndrome.

Clinical genetics - 1 Mar 2018

Zarate Y A, Steinraths M, Matthews A, Smith W E, Sun A, Wilson L C, Brain C, Allgove J, Jacobs B, Fish J L, Powell C M, Wasserman W W, van Karnebeek C D, Wakeling E L, Ma N S

Abstract excerpt

SATB2-associated syndrome (SAS) is a rare disorder caused by alterations in the special AT-rich sequence-binding protein 2 (SATB2). Skeletal abnormalities such as tibial bowing, osteomalacia, osteopenia or osteoporosis have been reported suggesting a higher frequency of skeletal complications in SAS. The optimal timing, necessity, and methodology for routine assessment of bone health in individuals with SAS,...

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Source

Identifiers

PMID: 28787087
DOI: 10.1111/cge.13121

Genes

SATB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Bone health and SATB2-associated syndrome.PMID 28787087Read ↗

Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.Semantic proximity Read ↗

Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.Semantic proximity Read ↗

Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencingSemantic proximity Read ↗

Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2-Associated Syndrome.Semantic proximity Read ↗

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.Semantic proximity Read ↗

Novel variant related to SATB2-associated syndrome.Semantic proximity Read ↗

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.Semantic proximity Read ↗

Further delineation of the SATB2 phenotype.Semantic proximity Read ↗

SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.Semantic proximity Read ↗

Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways.Semantic proximity Read ↗

Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activitySemantic proximity Read ↗

The role of SATB2 in skeletogenesis and human diseaseSemantic proximity Read ↗

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