Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus
Author:
Affiliation:
1. Department of Pediatrics, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
2. Department of Pediatrics, Andong General Hospital, Andong, Korea.
Publisher
Korean Society of Pediatric Endocrinology
Subject
Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Link
https://synapse.koreamed.org/pdf/10.6065/apem.2017.22.2.133
Reference28 articles.
1. Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
2. The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11
3. A Case of Chromosome 22q11 Deletion Syndrome Diagnosed in a 32-Year-Old Man with Hypoparathyroidism
4. Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome
5. DiGeorge Syndrome: a not so rare disease
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