Article
Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.
Pediatric nephrology (Berlin, Germany) - 1 Mar 2006
Lotan Danny, Eisenkraft Arik, Jacobsson Jeffrey M, Bar-Yosef Omer, Kleta Robert, Gal Nurit, Raviv-Zilka Lisa, Gore Hagar, Anikster Yair
Abstract excerpt
Carbonic anhydrase II (CA2) deficiency syndrome is an autosomal recessive disorder leading to osteopetrosis, renal tubular acidosis, and cerebral calcifications. Affected members of an Arab family with the CA2 deficiency syndrome carried the "Egyptian mutation" in CA2, i.e., c.191 del A, H64fsX90. One affected member, homozygote for the mutation, developed primary pulmonary hypertension. Primary pulmonary...
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