Familial Absence of the Patella
Overview
Orthopedics
Authors
Affiliations
Magnetic Resonance Imaging Findings in Small Patella Syndrome.
Kim H, Yoo J, Park N, Chang J, Ban Y, Song S Knee Surg Relat Res. 2016; 28(1):75-8.
PMID: 26955616 PMC: 4779809. DOI: 10.5792/ksrr.2016.28.1.75.
Mutations in the human TBX4 gene cause small patella syndrome.
Bongers E, Duijf P, van Beersum S, Schoots J, Van Kampen A, Burckhardt A Am J Hum Genet. 2004; 74(6):1239-48.
PMID: 15106123 PMC: 1182087. DOI: 10.1086/421331.
Nail patella syndrome: a review of the phenotype aided by developmental biology.
Sweeney E, Fryer A, Mountford R, Green A, McIntosh I J Med Genet. 2003; 40(3):153-62.
PMID: 12624132 PMC: 1735400. DOI: 10.1136/jmg.40.3.153.
Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.
Mangino M, Sanchez O, Torrente I, De Luca A, Capon F, Novelli G Am J Hum Genet. 1999; 65(2):441-7.
PMID: 10417287 PMC: 1377943. DOI: 10.1086/302505.