Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Ocular features |
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | OcularSystemic
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Therapies under research |
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Further information |
References
- Gao X, Hannoush RN. Single-cell imaging of Wnt palmitoylation by the acyltransferase porcupine. Nat Chem Biol. 2014;10(1):61‐68
- Happle R, Lenz W. Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?. Br J Dermatol. 1977;96(2):133‐135
- Larrègue M, Duterque M. Letter: Striated osteopathy in focal dermal hypoplasia. Arch Dermatol. 1975;111(10):1365
- Bostwick B, Fang P, Patel A, Sutton VR. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet C Semin Med Genet. 2016;172C(1):9‐20