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Results 1 - 10 of 10 for X "inactivation," familial "skewed," 1
  1. X-linked sideroblastic anemia 
    ... sideroblastic anemias. Curr Hematol Rep. 2006 Mar;5(1):41-9. Citation on PubMed Cazzola M, May A, Bergamaschi G, Cerani P, Rosti V, Bishop DF. Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X- ...
    https://medlineplus.gov/.../condition/x-linked-sideroblastic-anemia - Genetics
  2. Otopalatodigital syndrome type 1 
    ... mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. Am J Med Genet A. 2005 Jul 15; ...
    https://medlineplus.gov/.../otopalatodigital-syndrome-type-1 - Genetics
  3. Oculofaciocardiodental syndrome 
    ... Am J Med Genet. 1996 May 3;63(1):290-2. doi: 10.1002/(SICI)1096-8628(19960503)63:13.0.CO;2-G. Citation on PubMed Hedera P, Gorski JL. Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant ...
    https://medlineplus.gov/.../oculofaciocardiodental-syndrome - Genetics
  4. Hemophilia 
    ... females with an F8 or F9 gene variant, X-inactivation is skewed, and the chromosome with the normal copy of the ... Genetic Testing Registry: Hemophilia Genetic Testing ...
    https://medlineplus.gov/genetics/condition/hemophilia - Genetics
  5. Aicardi syndrome 
    ... does not occur randomly, it is called skewed X-inactivation.Skewed X-inactivation sometimes occurs when there is a severe gene ... well, X-inactivation will appear to be skewed. Skewed X-inactivation has been identified in girls with Aicardi syndrome, ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  6. Incontinentia pigmenti 
    Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.Incontinentia ...
    https://medlineplus.gov/genetics/condition/incontinentia-pigmenti - Genetics
  7. MECP2 duplication syndrome 
    ... inactivation does not occur randomly, it is called skewed X-inactivation. Females with a MECP2 gene duplication often have skewed X-inactivation, which results in the inactivation of the X ...
    https://medlineplus.gov/.../condition/mecp2-duplication-syndrome - Genetics
  8. Pyruvate dehydrogenase deficiency 
    ... inactivation does not occur randomly, it is called skewed X-inactivation.Research shows that females with pyruvate dehydrogenase deficiency ... by mutation of the PDHA1 gene often have skewed X-inactivation, which results in the inactivation of the X ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  9. Terminal osseous dysplasia 
    ... inactivation does not occur randomly, it is called skewed X-inactivation.In terminal osseous dysplasia, skewed X-inactivation allows for the normal copy of the FLNA ...
    https://medlineplus.gov/.../condition/terminal-osseous-dysplasia - Genetics
  10. Focal dermal hypoplasia 
    ... inactivation does not occur randomly, it is called skewed X-inactivation. Researchers suspect that the distribution of active and ...
    https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia - Genetics