carbonic anhydrase II deficiency syndrome

car·bon·ic an·hy·drase II de·fi·cien·cy syn·drome

an inherited deficiency of carbonic anhydrase II that results in osteopetrosis and metabolic acidosis.
Synonym(s): osteopetrosis with renal tubular acidosis
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis.
Long-term follow up of carbonic anhydrase II deficiency syndrome. Saudi Med J 2002; 23:25-29.
A case of Carbonic Anhydrase Type 2 Deficiency Syndrome with autistic disorder/ Karbonik Anhidraz Tip 2 Eksikligi Sendromu ve otistik bozukluk
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