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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Clin Pediatr Endocrinol
Prif Awduron: Hasegawa, Kosei, Tanaka, Hiroyuki, Higuchi, Yousuke, Hayashi, Yumiko, Kobayashi, Katsuhiro, Tsukahara, Hirokazu
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Japanese Society for Pediatric Endocrinology 2018
Pynciau:
Case Report
Mynediad Ar-lein: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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