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Results 1 - 10 of 1,729 for Three M syndrome 1
  1. 3-M syndrome 
    ... 3M syndrome National Organization for Rare Disorders (NORD) THREE M SYNDROME 1; 3M1 THREE M SYNDROME 3; 3M3 THREE M SYNDROME 2; 3M2 PubMed ... Munnich A, Cormier-Daire V. OBSL1 mutations in 3-M syndrome are associated ... levels. Hum Mutat. 2010 Jan;31(1):20-6. doi: 10.1002/humu.21150. Citation ...
    https://medlineplus.gov/genetics/condition/3-m-syndrome - Genetics
  2. OBSL1 gene 
    ... gene mutations and the signs and symptoms of 3-M syndrome are unknown. More About This Health Condition KIAA0657 obscurin-like protein 1 isoform 1 precursor obscurin-like protein 1 isoform ...
    https://medlineplus.gov/genetics/gene/obsl1 - Genetics
  3. Romano-Ward syndrome 
    ... Rare Disorders (NORD) ClinicalTrials.gov LONG QT SYNDROME 1; LQT1 LONG QT SYNDROME 3; LQT3 LONG QT SYNDROME 2; LQT2 PubMed Bohnen MS, Peng G, Robey SH, Terrenoire C, Iyer V, ...
    https://medlineplus.gov/genetics/condition/romano-ward-syndrome - Genetics
  4. Kleefstra syndrome 
    ... syndrome 9q- syndrome 9q34.3 deletion syndrome 9q34.3 microdeletion syndrome Chromosome 9q deletion syndrome ... PubMed Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  5. GTF2I gene 
    ... in social interactions. Autism Res. 2011 Feb;4(1):28-39. doi: 10.1002/aur.169. Epub 2010 Dec 3. Citation on PubMed Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol ...
    https://medlineplus.gov/genetics/gene/gtf2i - Genetics
  6. Multicentric osteolysis, nodulosis, and arthropathy 
    ... 3. Citation on PubMed Al-Mayouf SM, Majeed M, Hugosson C, Bahabri S. New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis (NAO) syndrome. Am J Med Genet. 2000 Jul 3;93(1):5-10. doi: 10.1002/1096-8628(20000703) ...
    https://medlineplus.gov/...tric-osteolysis-nodulosis-and-arthropathy - Genetics
  7. Deoxyguanosine kinase deficiency 
    ... for Rare Disorders (NORD) MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 PubMed Alberio S, Mineri R, Tiranti V, Zeviani M. Depletion of mtDNA: syndromes and genes. Mitochondrion. 2007 Feb-Apr;7(1-2):6-12. doi: 10.1016/j.mito. ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  8. Melnick-Needles syndrome 
    ... Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. Clin Dysmorphol. 2007 Jan;16(1):27-33. doi: 10.1097/01.mcd.0000228418.74413.52. Citation on PubMed Kristiansen M, Knudsen GP, Soyland A, Westvik J, Orstavik KH. ...
    https://medlineplus.gov/genetics/condition/melnick-needles-syndrome - Genetics
  9. UV-sensitive syndrome 
    ... Organization for Rare Disorders (NORD) UV-SENSITIVE SYNDROME 1; UVSS1 UV-SENSITIVE SYNDROME 2; UVSS2 UV-SENSITIVE SYNDROME 3; UVSS3 PubMed Horibata K, Iwamoto Y, Kuraoka I, Jaspers NG, Kurimasa A, Oshimura M, Ichihashi M, Tanaka K. Complete absence of Cockayne ...
    https://medlineplus.gov/genetics/condition/uv-sensitive-syndrome - Genetics
  10. Blau syndrome 
    ... factor-kappaB activation: common genetic etiology with Blau syndrome. Blood. 2005 Feb 1;105(3):1195-7. doi: 10.1182/blood-2004-07-2972. Epub 2004 Sep 30. Citation on PubMed Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, Chamaillard ...
    https://medlineplus.gov/genetics/condition/blau-syndrome - Genetics
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