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Results 1 - 10 of 14 for Null syndrome
  1. Thrombocytopenia-absent radius syndrome 
    ... a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012 Feb 26;44(4):435- ...
    https://medlineplus.gov/.../thrombocytopenia-absent-radius-syndrome - Genetics
  2. Chromosome 1 
    ... a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012 Feb 26;44(4):435- ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics
  3. RBM8A gene 
    ... a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012 Feb 26;44(4):435- ...
    https://medlineplus.gov/genetics/gene/rbm8a - Genetics
  4. Stüve-Wiedemann syndrome 
    ... Munnich A, Legeai-Mallet L, Cormier-Daire V. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2): ...
    https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome - Genetics
  5. Schwartz-Jampel syndrome 
    ... Munnich A, Legeai-Mallet L, Cormier-Daire V. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2): ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  6. LIFR gene 
    ... Munnich A, Legeai-Mallet L, Cormier-Daire V. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2): ...
    https://medlineplus.gov/genetics/gene/lifr - Genetics
  7. COL5A1 gene 
    ... Atkinson M, Hoffman GG, Greenspan DS, Byers PH. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/col5a1 - Genetics
  8. Cerebral folate transport deficiency 
    ... Genetic Testing Registry: Cerebral folate transport deficiency Neurodegenerative syndrome due ... Cario H, Bode H, Debatin KM, Opladen T, Schwarz K. Congenital null mutations of the FOLR1 gene: a progressive neurologic ...
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
  9. HSPG2 gene 
    ... mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic ... is caused by functional null mutations of the perlecan gene. Nat Genet. 2001 ...
    https://medlineplus.gov/genetics/gene/hspg2 - Genetics
  10. COL11A1 gene 
    ... expands the phenotype and reveals two COL11A1 homozygous null mutations. Clin Genet. 2012 Aug;82(2):147- ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
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