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Results 1 - 10 of 12 for Breathing dysregulation
  1. Congenital central hypoventilation syndrome 
    ... syndrome (CCHS) is a disorder that affects normal breathing. People with this disorder take shallow breaths (hypoventilate), ... ventilation) or a device that stimulates a normal breathing pattern (diaphragm pacemaker). Some affected individuals need this ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
  2. Chromosome 22 
    ... variety of genes on and off abnormally. This dysregulation of transcription leads to ... breathing or swallowing, brain malformations, distinct facial features, and ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics
  3. NKX2-1 gene 
    ... NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid ...
    https://medlineplus.gov/genetics/gene/nkx2-1 - Genetics
  4. Central core disease 
    ... Paesante S, Zorzato F. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. Neuromuscul Disord. ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  5. Myasthenia gravis 
    ... R. Myasthenia gravis: a comprehensive review of immune dysregulation and etiological mechanisms. J Autoimmun. 2014 Aug;52: ...
    https://medlineplus.gov/genetics/condition/myasthenia-gravis - Genetics
  6. Brain-lung-thyroid syndrome 
    ... NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid ...
    https://medlineplus.gov/.../condition/brain-lung-thyroid-syndrome - Genetics
  7. Malignant hyperthermia 
    ... Paesante S, Zorzato F. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. Neuromuscul Disord. ...
    https://medlineplus.gov/genetics/condition/malignant-hyperthermia - Genetics
  8. RAB18 deficiency 
    ... Micro syndrome is caused by RAB18 deficiency or dysregulation. Open Biol. 2015 Jun;5(6):150047. doi: ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
  9. Familial dysautonomia 
    ... Respiratory and cardiovascular indicators of autonomic nervous system dysregulation in familial dysautonomia. Pediatr Pulmonol. 2012 Jul;47( ...
    https://medlineplus.gov/genetics/condition/familial-dysautonomia - Genetics
  10. Fibrodysplasia ossificans progressiva 
    ... de la Pena LS, Kaplan FS, Shore EM. Dysregulation of the BMP-p38 MAPK signaling pathway in ...
    https://medlineplus.gov/.../fibrodysplasia-ossificans-progressiva - Genetics
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