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Results 1 - 10 of 47 for Brown syndrome
  1. DNMT3A gene 
    ... N, Toribe Y, Shimojima K, Yamamoto T. Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. Am J Med Genet ... on PubMed Ostrowski PJ, Tatton-Brown K. Tatton-Brown-Rahman Syndrome. 2022 Jun 30. In: Adam MP, Feldman J, ...
    https://medlineplus.gov/genetics/gene/dnmt3a - Genetics
  2. SLC52A3 gene 
    ... disorders that were previously considered to be separate: Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. The gene mutations involved ... Aggarwal AK, Miller M, Williams C, Crow YJ. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression ...
    https://medlineplus.gov/genetics/gene/slc52a3 - Genetics
  3. SLC52A2 gene 
    ... disorders that were previously considered to be separate: Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. Some of the gene ... transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J Inherit Metab Dis. 2012 Nov;35(6): ...
    https://medlineplus.gov/genetics/gene/slc52a2 - Genetics
  4. NSD1 gene 
    ... PubMed or Free article on PubMed Central Tatton-Brown K, Cole TRP, Rahman N. Sotos Syndrome. 2004 Dec 17 [updated 2022 Dec 1]. In: ... nih.gov/books/NBK1479/ Citation on PubMed Tatton-Brown K, Douglas ... in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. ...
    https://medlineplus.gov/genetics/gene/nsd1 - Genetics
  5. PTPN11 gene 
    ... Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized by multiple brown skin spots (lentigines), heart defects, short stature, a ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  6. DCTN1 gene 
    ... KP, Wider C, Vilarino-Guell C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK. DCTN1 mutations in Perry syndrome. Nat Genet. 2009 Feb;41(2):163-5. ...
    https://medlineplus.gov/genetics/gene/dctn1 - Genetics
  7. BRAF gene 
    ... Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized by multiple brown skin spots (lentigines), heart defects, short stature, a ...
    https://medlineplus.gov/genetics/gene/braf - Genetics
  8. MAP2K1 gene 
    ... Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized by multiple brown skin spots (lentigines), heart defects, short stature, a ...
    https://medlineplus.gov/genetics/gene/map2k1 - Genetics
  9. RAF1 gene 
    ... Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized by multiple brown skin spots (lentigines), heart defects, short stature, a ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
  10. PURA gene 
    ... ELEMENT-BINDING PROTEIN A; PURA NCBI Gene ClinVar Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, Stark Z. 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. ...
    https://medlineplus.gov/genetics/gene/pura - Genetics
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