A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of theSALL1gene
Author:
Affiliation:
1. Department of Pediatrics, Hanyang University School of Medicine, Seoul, Korea.
2. Medical Genetic Clinics and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Publisher
Korean Pediatric Society
Subject
Pediatrics,Pediatrics, Perinatology, and Child Health
Link
http://kjp.or.kr/upload/pdf/kjped-53-1018.pdf
Reference17 articles.
1. Townes—Brocks syndrome in two mentally retarded youngsters
2. Townes-Brocks syndrome associated with mental retardation
3. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
4. Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome
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