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Results 1 - 10 of 111 for Brown syndrome
  1. DNMT3A overgrowth syndrome 
    ... history of the disorder in their family. Tatton-Brown-Rahman syndrome TBRS Genetic Testing Registry: Tatton-Brown-Rahman overgrowth syndrome National Organization for Rare Disorders (NORD) TATTON-BROWN-RAHMAN SYNDROME; TBRS PubMed Lemire G, Gauthier J, Soucy JF, ...
    https://medlineplus.gov/.../condition/dnmt3a-overgrowth-syndrome - Genetics
  2. Riboflavin transporter deficiency neuronopathy 
    ... two conditions that were once considered distinct disorders: Brown-Vialetto-Van Laere syndrome (BVVLS) and Fazio-Londe disease. The two conditions ... not show signs and symptoms of the condition. Brown-Vialetto-Van Laere syndrome BVVLS Fazio-Londe disease Fazio-Londe syndrome Pontobulbar ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  3. 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
  4. 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
  5. 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
  6. Sotos syndrome 
    ... Epub 2015 Sep 29. Citation on PubMed Tatton-Brown K, Cole TRP, Rahman N. Sotos Syndrome. 2004 Dec 17 [updated 2022 Dec 1]. In: ... PubMed or Free article on PubMed Central Tatton-Brown K, Rahman N. Clinical features of NSD1-positive Sotos syndrome. Clin Dysmorphol. 2004 Oct;13(4):199-204. ...
    https://medlineplus.gov/genetics/condition/sotos-syndrome - Genetics
  7. 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
  8. Hutchinson-Gilford progeria syndrome 
    ... 10.2741/216. Citation on PubMed Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. 2003 Dec 12 [updated 2023 Oct 19]. In: ...
    https://medlineplus.gov/.../hutchinson-gilford-progeria-syndrome - Genetics
  9. RAPADILINO syndrome 
    ... stature in affected individuals.Some individuals with RAPADILINO syndrome have harmless light brown patches of skin that resemble a skin finding known as café-au-lait spots. In addition, people with RAPADILINO syndrome have a slightly increased risk of developing a ...
    https://medlineplus.gov/genetics/condition/rapadilino-syndrome - Genetics
  10. Thrombocytopenia-absent radius syndrome 
    ... PJ, Brunner HG, Verschuuren-Bemelmans CC, Vernon E, Brown KW, Newbury-Ecob RA. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet. 2002 ...
    https://medlineplus.gov/.../thrombocytopenia-absent-radius-syndrome - Genetics
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