Concepedia

Pseudoxanthoma Elasticum Is a Recessive Disease Characterized by Compound Heterozygosity

Franziska Ringpfeil, Kelly McGuigan, Lauren Fuchsel, Heidi Kozic, Margarita Larralde, Mark Lebwohl, Jouni Uitto

Journal of Investigative Dermatology · 2006 · 84 citations · 17 references

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References

17

Heritable Disorders of Connective Tissue

Victor A. McKusick · Postgraduate Medical Journal · 1960 · 1.5K citations

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Principles and Practice of Medical Genetics

M. S. Pembrey · Archives of Disease in Childhood · 1984 · 779 citations · Full text

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Mutations in ABCC6 cause pseudoxanthoma elasticum

Arthur A. Bergen, Astrid S. Plomp, Ellen J. Schuurman et al. · Nature Genetics · 2000 · 597 citations

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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Olivier Le Saux, Zsolt Urbán, Cordula Tschuch et al. · Nature Genetics · 2000 · 540 citations · Full text

, , +5

Heritable Disorders of Connective Tissue.

J. S. Lawrence · Annals of Internal Medicine · 1973 · 447 citations · Full text

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