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Results 1 - 10 of 21 for CREST syndrome
  1. PACS1 gene 
    ... novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91( ...
    https://medlineplus.gov/genetics/gene/pacs1 - Genetics
  2. CHD7 gene 
    ... Pauli S. CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. Hum Genet. 2014 Aug;133(8): ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  3. ZEB2 gene 
    ... tissues before birth. The abnormal development of neural crest-derived structures, such as the nervous system and facial features, underlie many of the signs and symptoms of Mowat-Wilson syndrome. The role of the ZEB2 protein in the ...
    https://medlineplus.gov/genetics/gene/zeb2 - Genetics
  4. TFAP2B gene 
    ... normal development of structures derived from the neural crest, including the heart and facial features. Abnormal development of these tissues leads to the major features of Char syndrome. More About This Health Condition Studies suggest that ...
    https://medlineplus.gov/genetics/gene/tfap2b - Genetics
  5. PAX3 gene 
    ... specialized tissues. A lack of specialization of neural crest cells leads to the impaired growth of craniofacial bones, nerve tissue, and muscles seen in craniofacial-deafness-hand syndrome. More About This Health Condition PAX3 gene variants ...
    https://medlineplus.gov/genetics/gene/pax3 - Genetics
  6. SNAI2 gene 
    ... of pigmentation that are characteristic features of Waardenburg syndrome type II. More About This Health Condition neural crest transcription factor SLUG SLUG slug homolog, zinc finger ...
    https://medlineplus.gov/genetics/gene/snai2 - Genetics
  7. SPECC1L gene 
    ... is specifically involved in the migration of neural crest cells that come together to form the forehead, nasal bridge, and lower jaw. At least two mutations in the SPECC1L gene have been found to cause Opitz G/BBB syndrome. This condition causes several abnormalities along the midline ...
    https://medlineplus.gov/genetics/gene/specc1l - Genetics
  8. TFAP2A gene 
    ... organs. Among the embryonic structures formed from neural crest cells are the branchial ... called branchio-oculo-facial syndrome, which is characterized by skin anomalies on the ...
    https://medlineplus.gov/genetics/gene/tfap2a - Genetics
  9. TCOF1 gene 
    ... Trainor PA. Tcof1/Treacle is required for neural crest cell formation and ... The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA ...
    https://medlineplus.gov/genetics/gene/tcof1 - Genetics
  10. SOX10 gene 
    ... SOX10 protein cannot control genes that signal neural crest cells to become ... of Waardenburg syndrome.Researchers have found that variants in the SOX10 ...
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
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