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Results 1 - 5 of 5 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. 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
  3. 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
  4. 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
  5. MECP2-related severe neonatal encephalopathy 
    ... Francke U. Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal ...
    https://medlineplus.gov/...p2-related-severe-neonatal-encephalopathy - Genetics