All individuals with variants in gene TOP3A

11 entries on 1 page. Showing entries 1 - 11.
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00449701 Fam1Pat1 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents F - United States Czech;Ireland - - - - BLM see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; mild developmental delay; no cancer; no decreased subcutaneous fat; gastroesophageal reflux; no diabetes mellitus; recurrent infections (recurrent otitis media and tonsillitis, leading to tonsillectomy); no malar rash; no dilated cardiomyopathy; congenital dislocation hip, gastrostomy; postnatally, weight, height and OFC significantly reduced 1 1 Johan den Dunnen
00449702 Fam2Pat2 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 3 affected, unaffected heterozygous parents F - United Arab Emirates - - - - - BLM see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no diabetes mellitus; no malar rash; no dilated cardiomyopathy; postnatally, weight, height and OFC significantly reduced 1 3 Johan den Dunnen
00449703 Fam2Pat3 PubMed: Martin 2018, Journal: Martin 2018 sib F - United Arab Emirates - - - - - BLM see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no diabetes mellitus; no malar rash; dilated cardiomyopathy; abnormal movements and tics; postnatally, weight, height and OFC significantly reduced 1 1 Johan den Dunnen
00449704 Fam2Pat4 PubMed: Martin 2018, Journal: Martin 2018 sib M - United Arab Emirates - - - - - BLM see paper; ..., deceased, ; prenatal-onset growth restriction; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no diabetes mellitus; no malar rash; severe dilated cardiomyopathy (deceased); postnatally, weight, height and OFC significantly reduced 1 1 Johan den Dunnen
00449705 Fam3Pat5 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents F - Japan - - - - - BLM see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; no café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; dilated cardiomyopathy (after heart transplant); mitochondrial DNA depletion muscle (0.87); hearing loss, combined malonic and methylmalonic aciduria; postnatally, weight, height and OFC significantly reduced 2 1 Johan den Dunnen
00449706 Fam4Pat6 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents F - Syria - - - - - BLM see paper; ..., prenatal-onset growth restriction; café-au-lait macules; mild developmental delay (expressive speech delay); no cancer; no decreased subcutaneous fat; gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; ECG normal; postnatally, weight, height and OFC significantly reduced 1 1 Johan den Dunnen
00449707 Fam5Pat7 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 2 affected, unaffected heterozygous parents F - Spain - - - - - BLM see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; no café-au-lait macules; no developmental delay; no cancer; decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; postnatally, weight, height and OFC significantly reduced 1 2 Johan den Dunnen
00449708 Fam5Pat8 PubMed: Martin 2018, Journal: Martin 2018 sib M - Spain - - - - - BLM see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; mild developmental delay; no cancer; decreased subcutaneous fat; no diabetes mellitus; no malar rash; dilated cardiomyopathy (asymptomatic), mild left-ventricle dilatation; postnatally, weight, height and OFC significantly reduced 1 1 Johan den Dunnen
00449709 Fam6Pat9 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents M - Syria - - - - - BLM see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; recurrent infections; no malar rash; hypertrophic cardiomyopathy; microcytic anemia (due to beta-thalassemia trait); postnatally, weight, height and OFC significantly reduced 1 1 Johan den Dunnen
00449710 Fam7Pat10 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents F - Saudi Arabia - - - - - BLM see paper; ..., prenatal-onset growth restriction; café-au-lait macules; mild developmental delay; no cancer; decreased subcutaneous fat; no diabetes mellitus; recurrent infections (reccurent upper-respiratory-tract infections, oral thrush); no malar rash; no dilated cardiomyopathy; postnatally, weight, height and OFC significantly reduced 1 1 Johan den Dunnen
00449713 PatMC1 PubMed: Nicholls 2018 - F - United Kingdom (Great Britain) - - - - - ? see paper; ..., prenatal-onset growth restriction; no café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; postnatally, weight, height and OFC significantly reduced 2 1 Johan den Dunnen
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