DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS.
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.
Hum Mutat 2004;
24 (03) 272
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