4 research outputs found
Dendrogram: age at diagnosis, smoking, TSHR rs179247.
<p>Group A: N = 249, median age 43 years, smokers, genotypes: GG, AG, AA, with GO: N = 138 (55%), without GO: N = 112 (45%). Group B: N = 73, median age 41 years, non smokers, genotypes: GG with GO: N = 33 (45%), without GO: N = 41 (55%). Group C: N = 235, median age 35 years, non smokers, genotypes: AA,AG. with GO: N = 90 (38%), without GO: N = 145 (62%). Subgroup C1: N = 85, median age: 48 years, genotypes: AG with GO: N = 37 (44%), without GO: N = 48 (56%). Subgroup C2: N = 59, median age: 22 years, genotypes: AG With GO: N = 23 (39%), without GO: N = 36 (61%). Subgroup C3: N = 91, median age 35 years, genotypes: AA With GO: N = 30 (33%), without GO: N = 61 (67%).</p
Clinical characteristics of patients with GD, N = 768.
<p>Clinical characteristics of patients with GD, N = 768.</p
Phenotypic features of patients with Schimke immuno-osseous dysplasia (n = 34).
<p>Phenotypic features of patients with Schimke immuno-osseous dysplasia (n = 34).</p
Localization of <i>SMARCAL1</i> mutations detected in 34 subjects with Schimke immuno-osseous dysplasia.
<p>Legend: : recurrent mutations detected in at least three unrelated patients; Green font: novel mutations described for the first time in the current study. Reference sequence: ENST00000357276; NM_014140.</p