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Hypophosphatasia.
Mornet E
Orphanet J Rare Dis 2007, 2:40
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Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles
Fauvert D, Brun-Heath I, Lia-Baldini AS, Bellazi L, Taillandier A, Serre JL, de Mazancourt P, Mornet E
BMC Medical Genetics 2009, 10:51 (6 June 2009)
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2.
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Orodental phenotype and genotype findings in all subtypes of hypophosphatasia
Reibel A, Manière MC, Clauss F, Droz D, Alembik Y, Mornet E, Bloch-Zupan A
Orphanet Journal of Rare Diseases 2009, 4:6 (21 February 2009)
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