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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Mangino, M, Sanchez, O, Torrente, I, De Luca, A, Capon, F, Novelli, G, Dallapiccola, B
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1999
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377943/
https://ncbi.nlm.nih.gov/pubmed/10417287
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