Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures

Patients with 22q11.2 deletion syndrome have characteristic facial appearance, palate abnormalities, hypoparathyroidism, thymic hypoplasia, and congenital heart disease. The 22q11.2 region includes TBX1 and 30 other genes. Analysis of Tbx1 transgenic mice showed that TBX1 was associated with the 22q...

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Bibliographic Details
Published in:Clin Pediatr Endocrinol
Main Authors: Hasegawa, Kosei, Tanaka, Hiroyuki, Higuchi, Yousuke, Hayashi, Yumiko, Kobayashi, Katsuhiro, Tsukahara, Hirokazu
Format: Artigo
Language:Inglês
Published: The Japanese Society for Pediatric Endocrinology 2018
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6073064/
https://ncbi.nlm.nih.gov/pubmed/30083032
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.27.159
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