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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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| Publicado no: | Clin Pediatr Endocrinol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Japanese Society for Pediatric Endocrinology
2018
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| Assuntos: | |
| Acesso em linha: | 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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