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Results 1 - 8 of 8 for Cellular mosaicism
  1. Smith-Kingsmore syndrome 
    ... of mTORC1 and mTORC2: Connected yet apart in cellular and molecular aspects. Adv ... Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 Jul 1;73(7):836- ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  2. Smith-Magenis syndrome 
    ... her egg cells. This phenomenon is called germline mosaicism. 17p- syndrome 17p11.2 ... Carmona-Mora P, Encina CA, Canales CP, Cao L, Molina J, Kairath P, Young JI, Walz K. Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) ...
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome - Genetics
  3. Ollier disease 
    ... molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene mutations cause the ... Enchondromatosis Enchondromatosis, multiple, Ollier type Multiple cartilaginous ...
    https://medlineplus.gov/genetics/condition/ollier-disease - Genetics
  4. Maffucci syndrome 
    ... molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene ... Chondrodysplasia with hemangioma Chondroplasia angiomatosis Dyschondroplasia and cavernous ...
    https://medlineplus.gov/genetics/condition/maffucci-syndrome - Genetics
  5. Ataxia neuropathy spectrum 
    ... to a novel C10Orf2 mutation with probable germline mosaicism. Neurology. 2005 ... cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics
  6. Renal coloboma syndrome 
    ... to protect against cell death during periods of cellular stress.Variants in the PAX2 gene lead to the production of a ... PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. Eur J Hum Genet. 2000 Nov;8(11): ...
    https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome - Genetics
  7. Timothy syndrome 
    ... the brain. Calcium ions are important for many cellular functions, including ... for a CACNA1C gene variant. Mosaicism means that the parent has the variant in ...
    https://medlineplus.gov/genetics/condition/timothy-syndrome - Genetics
  8. Epidermal nevus 
    ... inside the cell that control growth and other cellular functions.Mutations in the genes mentioned above lead to ... F, Zwarthoff EC, Hartmann A. Mosaicism of activating FGFR3 mutations in human skin causes ...
    https://medlineplus.gov/genetics/condition/epidermal-nevus - Genetics