Atteinte ophtalmologique au cours de la maladie d’Albers-Schönberg
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference56 articles.
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3. Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13;Van Hul;J Bone Miner Res,2002
4. Van Hul W, Bollerslev J, Gram J, Van Hul E, Wuyts W, Benichou O, et al. Localization of a gene for autosomal dominant osteopetrosis (Albers-Schönberg disease) to chromosome 1p21. Am J Hum Genet 1997;61(2):363–9.
5. Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation;Shah;Hum Mutat,2004
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