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Results 1 - 10 of 29 for Rh deficiency syndrome
  1. Constitutional mismatch repair deficiency syndrome 
    ... G, Frebourg T, Brugieres L. Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. J Med Genet. 2015 Nov;52(11):770-8. doi: 10.1136/jmedgenet-2015-103299. Epub 2015 Aug 28. Citation on PubMed Sijmons RH, Hofstra RMW. Review: Clinical aspects of hereditary DNA ...
    https://medlineplus.gov/...ional-mismatch-repair-deficiency-syndrome - Genetics
  2. Trichothiodystrophy 
    ... D, DiGiovanna JJ, Rizza E, Kraemer KH, Rice RH. Trichothiodystrophy hair shafts ... Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst). 2008 May 3; ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
  3. GAMT gene 
    ... O, Henry H, Beard E, Uldry J. Creatine deficiency syndromes and the importance ... Smith L, Barshop BA, Eng CM, Haas RH, Hunter JV, Lotze T, Maranda B, Willis M, ...
    https://medlineplus.gov/genetics/gene/gamt - Genetics
  4. Biotin-thiamine-responsive basal ganglia disease 
    ... responsive basal ganglia disease BTBGD Thiamine metabolism dysfunction syndrome 2 Thiamine transporter-2 deficiency Thiamine-responsive encephalopathy THMD2 ... Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, ...
    https://medlineplus.gov/...thiamine-responsive-basal-ganglia-disease - Genetics
  5. Guanidinoacetate methyltransferase deficiency 
    ... show signs and symptoms of the condition. Creatine deficiency syndrome due to GAMT deficiency Deficiency of guanidinoacetate methyltransferase ... for Rare Disorders (NORD) ClinicalTrials.gov CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 PubMed Almeida LS, Vilarinho L, Darmin ...
    https://medlineplus.gov/...idinoacetate-methyltransferase-deficiency - Genetics
  6. MSH6 gene 
    ... associated with a condition called constitutional mismatch repair deficiency (CMMRD) syndrome. Individuals with this condition are at increased risk ...
    https://medlineplus.gov/genetics/gene/msh6 - Genetics
  7. PMS2 gene 
    ... associated with a condition called constitutional mismatch repair deficiency (CMMRD) syndrome. PMS2 gene variants are the most frequent cause ...
    https://medlineplus.gov/genetics/gene/pms2 - Genetics
  8. MSH2 gene 
    ... associated with a condition called constitutional mismatch repair deficiency (CMMRD) syndrome. Individuals with this condition are at increased risk ...
    https://medlineplus.gov/genetics/gene/msh2 - Genetics
  9. MLH1 gene 
    ... been associated with condition called constitutional mismatch repair deficiency (CMMRD) syndrome. Individuals with this condition are at increased risk ...
    https://medlineplus.gov/genetics/gene/mlh1 - Genetics
  10. Bare lymphocyte syndrome type II 
    ... signs and symptoms of the condition. Bare lymphocyte syndrome type 2 BLS type II Major histocompatibility complex class II deficiency MHC class II deficiency SCID due to absence ...
    https://medlineplus.gov/.../bare-lymphocyte-syndrome-type-ii - Genetics
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