A chromosomal 5q31.1 gain involvingPITX1causes Liebenberg syndrome

Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics

(2013) Mohammad M. Al-Qattan et al.   GENE

Liebenberg Syndrome: Case Report and Insight Into Molecular Basis

(2013) Hisham Abdel-Ghani et al.   JOURNAL OF HAND SURGERY-AMERICAN VOLUME

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus

(2012) Malte Spielmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

(2012) Eva Klopocki et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Pitx1 is necessary for normal initiation of hindlimb outgrowth through regulation of Tbx4 expression and shapes hindlimb morphologies via targeted growth control

(2011) V. Duboc et al.   DEVELOPMENT

Regulation of limb bud initiation and limb-type morphology

(2011) Veronique Duboc et al.   DEVELOPMENTAL DYNAMICS

Building limb morphology through integration of signalling modules

(2009) Veronique Duboc et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT