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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Detalles Bibliográficos
Autores principales: Hasegawa, Kosei, Tanaka, Hiroyuki, Higuchi, Yousuke, Hayashi, Yumiko, Kobayashi, Katsuhiro, Tsukahara, Hirokazu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073064/
https://www.ncbi.nlm.nih.gov/pubmed/30083032
http://dx.doi.org/10.1297/cpe.27.159

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073064/
https://www.ncbi.nlm.nih.gov/pubmed/30083032
http://dx.doi.org/10.1297/cpe.27.159

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