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CREST syndrome
- ... cutaneous systemic scleroderma used to be known as CREST syndrome, which is named for the common features of ...
- ... Trainor PA. Tcof1/Treacle is required for neural crest cell formation and ... background of Treacher Collins syndrome. J Appl Genet. 2002;43(2):223-33. ...
- Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, ...
- ... 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( ...
- ... 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( ...
- ... Pauli S. CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. Hum Genet. 2014 Aug;133(8): ...
- ... crest cells. 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. PAX3 This condition is inherited in an autosomal ...
- ... 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 ...
- ... syndrome National Organization for Rare Disorders (NORD) BRANCHIOOCULOFACIAL SYNDROME; BOFS PubMed Developmental Biology (sixth edition, 2000): The Neural Crest Lin AE, Gorlin RJ, Lurie IW, Brunner HG, ...
- ... Mullen MP, Slavotinek AM. Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? Am J Med Genet A. 2005 Dec ...