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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, Dallapiccola B. Mangino M, et al. Am J Hum Genet. 1999 Aug;65(2):441-7. doi: 10.1086/302505. Am J Hum Genet. 1999. PMID: 10417287 Free PMC article.
Patella aplasia-hypoplasia (PTLAH) is a rare genetic defect characterized by congenital absence or marked reduction of the patella. ...Two marker loci (D17S787 and D17S1604) typed from this region gave maximum LOD scores >3. Accordingly, multipoint …
Patella aplasia-hypoplasia (PTLAH) is a rare genetic defect characterized by congenital absence or marked reduction of …
Bilateral recurrent patellar dislocation in a patient with isolated patella aplasia-hypoplasia.
Nomura E, Inoue M, Kobayashi S. Nomura E, et al. Arthroscopy. 2007 Oct;23(10):1136.e1-4. doi: 10.1016/j.arthro.2006.07.034. Epub 2007 Jan 5. Arthroscopy. 2007. PMID: 17916489
Patella aplasia-hypoplasia is a rare condition characterized by the congenital absence or marked reduction of the patellar bone. It is well known that patella aplasia-hypoplasia occurs in nail-patella syndrome, small patella syndrome, and …
Patella aplasia-hypoplasia is a rare condition characterized by the congenital absence or marked reduction of the patel …