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    PTLAH patella aplasia-hypoplasia [ Homo sapiens (human) ]

    Gene ID: 8830, updated on 31-Aug-2024

    Summary

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    Official Symbol
    PTLAHprovided by HGNC
    Official Full Name
    patella aplasia-hypoplasiaprovided by HGNC
    Primary source
    MIM:168860
    Gene type
    unknown
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FPAH

    Genomic context

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    Location:
    17q

    Bibliography

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    Related articles in PubMed

    1. Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22. Mangino M, et al. Am J Hum Genet, 1999 Aug. PMID 10417287, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Associated conditions

    Description Tests
    patella aplasia-hypoplasia
    OMIM: 168860GeneReviews: Not available

    General gene information

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    Markers

    Property

    • phenotype only

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