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Results 1 - 7 of 7 for Neonatal death
  1. DSP gene 
    ... missing fingernails, teeth that are present from birth (neonatal teeth), and abnormalities of the heart muscle (cardiomyopathy). The skin abnormalities lead to a severe loss of fluids and death in early infancy. Like the mutations that cause ...
    https://medlineplus.gov/genetics/gene/dsp - Genetics
  2. CAV1 gene 
    ... the CAV1 gene have been found to cause neonatal-onset generalized lipodystrophy syndrome. The signs and symptoms ... novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/gene/cav1 - Genetics
  3. HADHB gene 
    ... Wanders RJ, Marquardt I, Korenke GC, Das AM. Neonatal screening for defects of the mitochondrial trifunctional protein. ... oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their ...
    https://medlineplus.gov/genetics/gene/hadhb - Genetics
  4. HPD gene 
    ... J, Nassogne MC. Tyrosinemia Type III detected via neonatal screening: management and outcome. Mol Genet Metab. 2012 ...
    https://medlineplus.gov/genetics/gene/hpd - Genetics
  5. CACNA1C gene 
    ... Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy. ...
    https://medlineplus.gov/genetics/gene/cacna1c - Genetics
  6. LMNA gene 
    ... disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet. 2004 Oct 15;13( ...
    https://medlineplus.gov/genetics/gene/lmna - Genetics
  7. GFM1 gene 
    ... Bohr AH, Duno M, Wibrand F, Ostergaard E. Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations. Mol ...
    https://medlineplus.gov/genetics/gene/gfm1 - Genetics