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Results 1 - 7 of 7 for Perry syndrome
  1. DCTN1 gene 
    ... the DCTN1 gene have been found to cause Perry syndrome. This progressive brain disease is characterized by a ... breathing (hypoventilation).Most of the mutations that cause Perry syndrome change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/dctn1 - Genetics
  2. MT-TL1 gene 
    ... RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1 SUDDEN INFANT DEATH SYNDROME NCBI Gene ClinVar Betts J, Jaros E, Perry RH, Schaefer AM, Taylor RW, Abdel-All Z, ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  3. RPS14 gene 
    ... Central Pellagatti A, Hellstrom-Lindberg E, Giagounidis A, Perry J, Malcovati L, Della Porta MG, Jadersten M, Killick S, Fidler C, Cazzola M, Wainscoat JS, Boultwood J. Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation- ...
    https://medlineplus.gov/genetics/gene/rps14 - Genetics
  4. ORC4 gene 
    ... Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc ... gene ORC4 cause Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27;43(4):360- ...
    https://medlineplus.gov/genetics/gene/orc4 - Genetics
  5. SMOC1 gene 
    ... Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian ... Anophthalmia) syndrome in humans and mice. PLoS Genet. 2011 Jul; ...
    https://medlineplus.gov/genetics/gene/smoc1 - Genetics
  6. PPM1D gene 
    ... Ramsay E, Duarte Sdel V, Rivas MA, Warren-Perry M, Zachariou A, Campion-Flora A, Hanks S, ... de Vries BBA, Curry CJ. Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum ...
    https://medlineplus.gov/genetics/gene/ppm1d - Genetics
  7. SOX9 gene 
    ... Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, ...
    https://medlineplus.gov/genetics/gene/sox9 - Genetics