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Results 1 - 6 of 6 for Neurocutaneous syndrome
Did you mean "neuro cutaneous" syndrome?
  1. Sturge-Weber syndrome 
    Sturge-Weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Sturge- ...
    https://medlineplus.gov/genetics/condition/sturge-weber-syndrome - Genetics
  2. Neurofibromatosis type 1 
    ... No abstract available. Citation on PubMed Rose VM. Neurocutaneous syndromes. Mo Med. 2004 Mar-Apr;101(2):112- ...
    https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1 - Genetics
  3. ALDH18A1 gene 
    ... 5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Eur J Hum Genet. 2008 Oct;16(10): ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  4. GNAQ gene 
    ... the GNAQ gene has been found to cause Sturge-Weber syndrome. Sturge-Weber syndrome is a condition that affects the development of ... eye problems. The GNAQ gene mutation associated with Sturge-Weber syndrome changes a single building block (amino acid) in ...
    https://medlineplus.gov/genetics/gene/gnaq - Genetics
  5. BRAF gene 
    ... Mugica M. BRAF mutations are also associated with neurocutaneous melanocytosis and ... molecular diversity and associated phenotypic spectrum. Hum Mutat. ...
    https://medlineplus.gov/genetics/gene/braf - Genetics
  6. Giant congenital melanocytic nevus 
    ... National Organization for Rare Disorders (NORD) ... with neurocutaneous melanocytosis and large/giant congenital melanocytic nevi. Pediatr ...
    https://medlineplus.gov/.../giant-congenital-melanocytic-nevus - Genetics