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Results 1 - 10 of 34 for Rahman syndrome
  1. DNMT3A overgrowth syndrome 
    ... of the disorder in their family. Tatton-Brown-Rahman syndrome TBRS Genetic Testing Registry: Tatton-Brown-Rahman overgrowth ... 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. Leigh syndrome 
    ... nlm.nih.gov/books/NBK320989/ Citation on PubMed Rahman S. Leigh syndrome. Handb Clin Neurol. 2023;194:43-63. doi: ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics
  3. Sotos syndrome 
    ... Citation on PubMed Tatton-Brown K, Cole TRP, Rahman N. Sotos Syndrome. 2004 Dec 17 [updated 2022 Dec 1]. In: ... 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
  4. Weaver syndrome 
    ... IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am ... Nov 8. Citation on PubMed Tatton-Brown K, Rahman N. The NSD1 and EZH2 ... PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/weaver-syndrome - Genetics
  5. DICER1 syndrome 
    ... Houlston R, Stiller C, Stratton MR, Douglas J, Rahman N. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications ...
    https://medlineplus.gov/genetics/condition/dicer1-syndrome - Genetics
  6. BAP1 tumor predisposition syndrome 
    ... L, Carlo MI, Hanson H, Cebulla C, Abdel-Rahman M. BAP1 Tumor Predisposition Syndrome. 2016 Oct 13 [updated 2024 Dec 5]. In: ... PubMed Rai K, Pilarski R, Cebulla CM, Abdel-Rahman MH. Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. Clin Genet. ...
    https://medlineplus.gov/.../bap1-tumor-predisposition-syndrome - Genetics
  7. Neuropathy, ataxia, and retinitis pigmentosa 
    ... AND RETINITIS PIGMENTOSA PubMed Ball M, Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome Spectrum. 2003 Oct 30 [updated 2024 May 9]. ...
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  8. Mosaic variegated aneuploidy syndrome 
    ... Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet. 2011 Jun;43(6):527-9. ...
    https://medlineplus.gov/.../mosaic-variegated-aneuploidy-syndrome - Genetics
  9. Genitopatellar syndrome 
    ... syndrome National Organization for Rare Disorders (NORD) GENITOPATELLAR SYNDROME; GTPTS PubMed Abdul-Rahman OA, La TH, Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L. Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B ...
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
  10. 7q11.23 duplication syndrome 
    ... PubMed Morris CA, Mervis CB, Paciorkowski AP, Abdul-Rahman O, Dugan SL, Rope AF, Bader P, Hendon LG, Velleman SL, Klein-Tasman BP, Osborne LR. 7q11.23 Duplication syndrome: Physical characteristics and natural history. Am J Med ...
    https://medlineplus.gov/.../condition/7q1123-duplication-syndrome - Genetics
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