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Objectif. Decrire une variante legere d'osteopetrose autosomique dominante de type II (ADO II) au sein d'une famille comportant neuf sujets atteints. Methodes. Description clinique et radiologique. Les resultats ont ete compares a ceux obtenus precedemment dans une serie de 42 patients (23 familles) atteints d'ADO II classique. Cette nouvelle famille a ete haplotypee avec des marqueurs de la region...
Purpose. To describe a large family including nine subjects with a mild phenotypic variant of type II autosomal dominant osteopetrosis (ADO II). Methods. Clinical and radiological description. Results are compared to those previously obtained in 42 patients (23 families) with classical ADO II. The present family was haplotyped with five markers from the chromosomal 1p21 region, which was previously...
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