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Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis

✍ Scribed by Noëlle Souraty; Peter Noun; Claudia Djambas-Khayat; Eliane Chouery; Alessandra Pangrazio; Anna Villa; Gérard Lefranc; Annalisa Frattini; André Mégarbané

Book ID
116433027
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
732 KB
Volume
50
Category
Article
ISSN
1769-7212

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## Abstract Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive syndrome characterized by the presence of spondyloepiphyseal dysplasia associated with pain, stiffness, and swelling of multiple joints, osteoporosis, and the absence of destructive bone changes. The disorder is