Clinical Characteristics and Mutation Profile in Patients with Carbonic Anhydrase II Deficiency: A Systematic Review of Case Reports

Clinical Characteristics and Mutation Profile in Patients with Carbonic Anhydrase II Deficiency: A Systematic Review of Case Reports

Background: Carbonic anhydrase II (CA II) deficiency is a rare autosomal recessive genetic disorder presenting with the characteristic triad of osteopetrosis, renal tubular acidosis (RTA), and intracerebral calcifications. However, the spectrum of mutations and clinical features varies. Objectives:...

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Bibliographic Details
Main Authors: Rajkumar Kundavaram, Saswat Ranjan Raul, Vishnu Dev, Shruti Namdeo, Priya Gogia, Kirtisudha Mishra, Girish Chandra Bhatt
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2024-11-01
Series:Indian Pediatrics Case Reports
Subjects:
carbonic anhydrase ii gene
genetic analysis
intracerebral calcifications
osteopetrosis
renal tubular acidosis
triad
Online Access:https://journals.lww.com/10.4103/ipcares.ipcares_237_24
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