... Search term GeneReviews Advanced Search Help < Prev Next > Bloom Syndrome Katherine Langer , BA, Christopher M Cunniff , MD, FACMG, ... organizations. For information on selection criteria, click here . Bloom Syndrome Association www.bloomssyndromeassociation.org Bloom Syndrome Registry Weill ...

... a member of the anaphase-promoting complex/cyclosome. Bloom syndrome Loss of genomic stability is a major cause of Bloom syndrome. This disorder shows increased chromosomal breakage and is ...

... presence of overgrowth.[ 44 ][ Level of evidence C1 ] Bloom syndrome. This syndrome is characterized by short stature and ... BLM gene are the only known cause of Bloom syndrome.[ 45 ] Li-Fraumeni syndrome. This syndrome is a ...

... DMPK Myotonic dystrophy type 1 AD Cancer BLM Bloom syndrome AR May be considered if cancer is presenting symptom, but RTS & Bloom syndrome are childhood-onset disorders. Also, Werner syndrome cells ...

... may be assoc w/pancytopenia &/or AML BLM Bloom syndrome (BSyn) AR Cells derived from persons w/BSyn ... et al 2003 ] in a further link to Bloom syndrome . FANCM is found in both separable complexes: the ...

... RECQL5. Pathogenic variants in BLM are associated with Bloom syndrome ; pathogenic variants in WRN are associated with Werner ... Syndrome. Nelson A, Myers K. GeneReviews(®). 1993 Review Bloom Syndrome. [GeneReviews(®). 1993] Review Bloom Syndrome. Langer K, Cunniff ...

... of Monosomy 7 Distinguishing Clinical Features BLM ( RECQL3 ) Bloom syndrome 2 AR 1%-5% Childhood Severe pre- & postnatal ... ELANE , G6PC3 , GFI1 , HAX1 , JAGN , TCRG1 , VPS45A AR Bloom syndrome BLM Bone marrow failure syndrome 2 3 ERCC6L2 ...

... Features of Disorder Distinguishing Clinical Features of Disorder Bloom syndrome 1 BLM AR Rash characterized by an erythematous, ... in cells exposed to bromodeoxyuridine (BrdU) is diagnostic. Bloom syndrome is the only disorder in which such evidence ...