Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features

This publication has 27 references indexed in Scilit:

• Differential expression and function of members of the zfh-1 family of zinc finger/homeodomain repressors
  Proceedings of the National Academy of Sciences, 2000
• New mode of DNA binding of multi-zinc finger transcription factors: delta EF1 family members bind with two hands to two target sites
  The EMBO Journal, 1999
• SIP1, a Novel Zinc Finger/Homeodomain Repressor, Interacts with Smad Proteins and Binds to 5′-CACCT Sequences in Candidate Target Genes
  Journal of Biological Chemistry, 1999
• A Loss-of-Function Mutation in the Endothelin-Converting Enzyme 1 (ECE-1) Associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
  American Journal of Human Genetics, 1999
• Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.
  Journal of Medical Genetics, 1998
• Goldberg-Shprintzen syndrome: report of a new family and review of the literature
  Clinical Dysmorphology, 1998
• SOX10 mutations in patients with Waardenburg-Hirschsprung disease
  Nature Genetics, 1998
• Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease
  Nature Genetics, 1996
• A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
  Nature Genetics, 1996
• Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
  Nature Genetics, 1996