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Research Article

Limb/Pelvis-Hypoplasia/Aplasia Syndrome - Further Delineation of Phenotype

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Pages 355-358 | Published online: 06 Sep 2011

REFERENCES

  • Al-Awadi SA, Teebi AS, Farag TI, Naguib KM, El-Khalifa MY. Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: A new syndrome. J Med Genet 22:36–38, 1985.
  • Raas-Rothschild A, Goodman R, Meyer S, Katznelson M, Winter S, Gross E, Tamarkin M, Ben-Ami T, Nebel L, Mashiach S. Pathological features and prenatal diagnosis in the newly recognised limb/pelvis hypoplasia/ aplasia syndrome. J Med Genet 25:687–697, 1988.
  • Schinzel A. Phocomelia and additional anomalies in two sisters. Hum Genet 84:539–541, 1990.
  • Fuhrmann W, Fuhrmann-Rieger A, de Sousa F. Poly-, syn and oligodactyly, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs—a new autusomal recessive syndrome. Eur J Pediat 133:123–129, 1980.
  • Subhani M, Akangire G, Kulkarni A, Wilson GN. Al-Awadi/Raas-Rothschild/ Schinzel (AARRS) phocomelia syndrome: Case report and developmental field analysis. Am J Med Genet Part A 149A:1494–1498, 2009.
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  • Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: Overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet 82:304–319, 2008.

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