Liebenberg Syndrome Latest Advances
Find the Latest Research About Liebenberg Syndrome
Last Updated: 04/28/2026
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Found 11 publications
A New Case of PITX1-Related Mandibular-Pelvic-Patellar (MPP) Syndrome.
Journal: Clinics and practice
Published: September 28, 2025
Liebenberg syndrome severity arises from variations in Pitx1 locus topology and proportion of ectopically transcribing cells.
Journal: Nature communications
Published: February 07, 2025
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome.
Journal: Journal of medical genetics
Published: October 10, 2018
A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.
Journal: American journal of medical genetics. Part A
Published: November 25, 2013
The Liebenberg syndrome: in depth analysis of the original family.
Journal: The Journal of hand surgery, European volume
Published: August 14, 2013
Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics.
Journal: Gene
Published: September 30, 2012
Liebenberg syndrome: case report and insight into molecular basis.
Journal: The Journal of hand surgery
Published: September 26, 2012
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.
Journal: American journal of human genetics
Published: June 19, 2012
Liebenberg syndrome: first case of monovular twins.
Journal: Plastic and reconstructive surgery
Published: January 06, 2010
Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family.
Journal: Journal of medical genetics
Published: September 02, 2000
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Last Updated: 04/28/2026