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Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.

Patella aplasia-hypoplasia (PTLAH) is a rare genetic defect characterized by congenital absence or marked reduction of the patella. PTLAH can occur either as an isolated defect or in association with other malformations, and it characteristically occurs in the nail-patella syndrome and in some chrom...

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Bibliografiske detaljer
Main Authors: Mangino, M, Sanchez, O, Torrente, I, De Luca, A, Capon, F, Novelli, G, Dallapiccola, B
Format: Artigo
Sprog:Inglês
Udgivet: 1999
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377943/
https://ncbi.nlm.nih.gov/pubmed/10417287
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