A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the gene
Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnorm...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2010-12-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-53-1018.pdf |