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Results 1 - 9 of 9 for Richter syndrome
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  1. PRICKLE1-related progressive myoclonus epilepsy with ataxia 
    ... Saifi GM, Lupski JR, Delague V, Megarbane A, Richter A, Leshinsky E, Berkovic SF. An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology. ...
    https://medlineplus.gov/...rogressive-myoclonus-epilepsy-with-ataxia - Genetics
  2. TIMM8A gene 
    ... 0. Epub 2007 May 23. Citation on PubMed Richter D, Conley ME, Rohrer J, Myers LA, Zahradka K, Kelecic J, Sertic J, Stavljenic-Rukavina A. A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness. Pediatr ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  3. CREBBP gene 
    ... 17. Citation on PubMed Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
  4. Rubinstein-Taybi syndrome 
    ... 17. Citation on PubMed Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. ...
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome - Genetics
  5. BTK gene 
    ... on PubMed or Free article on PubMed Central Richter D, Conley ME, Rohrer J, Myers LA, Zahradka K, Kelecic J, Sertic J, Stavljenic-Rukavina A. A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness. Pediatr ...
    https://medlineplus.gov/genetics/gene/btk - Genetics
  6. ADNP gene 
    ... der Aa N. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014 Apr;46(4):380-4. doi: 10.1038/ng.2899. Epub 2014 Feb 16. Citation on PubMed or Free article on PubMed Central Malishkevich A, Leyk J, Goldbaum O, Richter-Landsberg C, Gozes I. ADNP/ADNP2 expression in ...
    https://medlineplus.gov/genetics/gene/adnp - Genetics
  7. Aromatase deficiency 
    ... PubMed Central Ludwikowski B, Heger S, Datz N, Richter-Unruh A, Gonzalez R. Aromatase deficiency: rare cause ...
    https://medlineplus.gov/genetics/condition/aromatase-deficiency - Genetics
  8. LHCGR gene 
    ... LHCGR NCBI Gene ClinVar Kossack N, Simoni M, Richter-Unruh A, Themmen AP, Gromoll J. Mutations in ...
    https://medlineplus.gov/genetics/gene/lhcgr - Genetics
  9. MCM6 gene 
    ... 1. Citation on PubMed Holthoff HP, Baack M, Richter A, Ritzi M, Knippers R. Human protein MCM6 ... novel cell-cycle-regulated interaction of the Bloom syndrome helicase BLM with Mcm6 controls replication-linked processes. ...
    https://medlineplus.gov/genetics/gene/mcm6 - Genetics