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Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.

Forsythe E, Sparks K, Hoskins BE, Bagkeris E, McGowan BM, Carroll PV, Huda MS, Mujahid S, Peters C, Barrett T, Mohammed S, Beales PL - Clin. Genet. (2014)

Bottom Line: Triglyceride levels were significantly elevated in patients with homozygous truncating mutations (p = 0.048).The results are compared with clinical cardiovascular risk factors.This could contribute to stratification of the clinical service.

View Article: PubMed Central - PubMed

Affiliation: Molecular Medicine Unit, UCL Institute of Child Health, University College London, London, UK.

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Related in: MedlinePlus

Age distribution of patients with mutations in BBS1 and BBS10 included in the analysis.
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fig02: Age distribution of patients with mutations in BBS1 and BBS10 included in the analysis.

Mentions: Of the remaining 69 patients seen in the clinic with a mutation in BBS1 or BBS10 the mean age was 28.25 (SD: 14.41, range: 0–59). The mean (SD) age of patients with a BBS1 mutation was 30.5 (15.6) years. In contrast the mean age (SD) of patients with a mutation in BBS10 was 22.32 (8.95) years (p = 0.034). Figure 2 illustrates the age distribution of patients with BBS1 and BBS10 included in this study. Twenty four (48%) patients with a mutation in BBS1 were female and 26 (52%) were male. Twelve (63.2%) patients with mutations in BBS10 were female and seven (36.8%) were male.


Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.

Forsythe E, Sparks K, Hoskins BE, Bagkeris E, McGowan BM, Carroll PV, Huda MS, Mujahid S, Peters C, Barrett T, Mohammed S, Beales PL - Clin. Genet. (2014)

Age distribution of patients with mutations in BBS1 and BBS10 included in the analysis.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4402025&req=5

fig02: Age distribution of patients with mutations in BBS1 and BBS10 included in the analysis.
Mentions: Of the remaining 69 patients seen in the clinic with a mutation in BBS1 or BBS10 the mean age was 28.25 (SD: 14.41, range: 0–59). The mean (SD) age of patients with a BBS1 mutation was 30.5 (15.6) years. In contrast the mean age (SD) of patients with a mutation in BBS10 was 22.32 (8.95) years (p = 0.034). Figure 2 illustrates the age distribution of patients with BBS1 and BBS10 included in this study. Twenty four (48%) patients with a mutation in BBS1 were female and 26 (52%) were male. Twelve (63.2%) patients with mutations in BBS10 were female and seven (36.8%) were male.

Bottom Line: Triglyceride levels were significantly elevated in patients with homozygous truncating mutations (p = 0.048).The results are compared with clinical cardiovascular risk factors.This could contribute to stratification of the clinical service.

View Article: PubMed Central - PubMed

Affiliation: Molecular Medicine Unit, UCL Institute of Child Health, University College London, London, UK.

Show MeSH
Related in: MedlinePlus