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Results 1 - 10 of 11 for CREST syndrome
  1. Systemic scleroderma 
    ... cutaneous systemic scleroderma used to be known as CREST syndrome, which is named for the common features of ...
    https://medlineplus.gov/genetics/condition/systemic-scleroderma - Genetics
  2. Treacher Collins syndrome 
    ... 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. ...
    https://medlineplus.gov/genetics/condition/treacher-collins-syndrome - Genetics
  3. Mowat-Wilson syndrome 
    Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  4. PACS1 syndrome 
    ... 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/condition/pacs1-syndrome - Genetics
  5. Craniofacial-deafness-hand syndrome 
    ... 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 ...
    https://medlineplus.gov/.../craniofacial-deafness-hand-syndrome - Genetics
  6. Branchio-oculo-facial syndrome 
    ... 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, ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
  7. Fryns syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
  8. Jacobsen syndrome 
    ... a cell migration defect autonomous to the neural crest. Hum Mol Genet. 2022 Dec 16;31(24):4217-4227. doi: 10.1093/hmg/ddac174. Citation on PubMed Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis. 2009 Mar 7;4: ...
    https://medlineplus.gov/genetics/condition/jacobsen-syndrome - Genetics
  9. 3MC syndrome 
    ... particularly important in directing the migration of neural crest cells. ... cause 3MC syndrome impair or eliminate the function of the corresponding ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  10. Congenital central hypoventilation syndrome 
    ... differentiation). The protein is active in the neural crest, which is a group of cells in the ... give rise to many tissues and organs. Neural crest cells migrate to form parts of the autonomic ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
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