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Gene Review

PTLAH  -  patella aplasia-hypoplasia

Homo sapiens

Synonyms: FPAH
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Disease relevance of PTLAH


High impact information on PTLAH


Biological context of PTLAH

  • After exclusion of the candidate chromosome regions where disorders associated with PTLAH have been mapped, a genomewide scan was performed that supported mapping of the disease locus within a region of 12 cM on chromosome 17q22 [1].
  • In this review, the phenotype and gene defects of syndromes with congenital patellar aplasia or hypoplasia will be discussed, including the nail patella syndrome, small patella syndrome, isolated patella aplasia hypoplasia, Meier-Gorlin syndrome, RAPADILINO syndrome, and genitopatellar syndrome [3].


  1. 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. Am. J. Hum. Genet. (1999) [Pubmed]
  2. Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia. Bongers, E.M., van Bokhoven, H., Knoers, N.V., Hamel, B.C., Woods, C.G. Am. J. Med. Genet. (2002) [Pubmed]
  3. Human syndromes with congenital patellar anomalies and the underlying gene defects. Bongers, E.M., van Kampen, A., van Bokhoven, H., Knoers, N.V. Clin. Genet. (2005) [Pubmed]
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