Disease: Brachydactyly elbow wrist dysplasia
- <em>H2AFY</em> promoter deletion causes <em>PITX1</em> endoactivation and Liebenberg syndrome
- A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome
- Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus
- Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics
- Liebenberg syndrome: case report and insight into molecular basis
- Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature
- Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement
- Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype
- The Liebenberg syndrome: in depth analysis of the original family