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1,587 Possible Causes for Variable Expressivity in Families

  • Metabolic Syndrome

    The expression and severity of the various clinical BBS features show inter- and intrafamilial variability.[] This study focuses on three cases of familial BBS--two sisters and one brother (66, 64 and 51 years of age, respectively)--with the main cardinal findings of the disease plus[]

  • Hyperuricemia

    Nature 456:464–469 PubMed CrossRef Google Scholar Lund AM, Schwartz M, Skovby F (1996) Variable clinical expression in a family with OI type IV due to deletion of three base[]

  • Restless Legs Syndrome

    Walters ASPicchietti DHening WLazzarini A Variable expressivity in familial restless legs syndrome. Arch Neurol 1990;471219- 1220 PubMed Google Scholar Crossref 13.[] Variable expressivity and clinical progression Variable expressivity for RLS symptoms in this family was established by evaluating the diagnostic criteria ( Walters, 1995[] Variable expressivity in familial restless legs syndrome. Arch Neurol 1990 ; 47 : 1219 –20. Walters AS, Picchietti DL, Ehrenberg BL, Wagner ML.[]

  • Fracture

    In addition, the presentation of the disease within affected members of the same family can be quite variable.[] Although it is a genetic disorder, many children have de novo mutations or autosomal-recessive disease and no family history of bone fragility.[] Phenotypic expression of the disease depends on the nature of the mutation, its relative abundance attributable to mosaicism, and its expression in target tissues. 55 Some[]

  • Obesity

    By array-CGH analysis, we identified a novel familial 3q29 deletion (1.36 Mb), centromeric to the 3q29 deletion region, which manifests with variable expressivity.[] Often, individuals carrying the same pathogenic CNV display high clinical variability.[] The deletion was identified in a 3-year-old girl diagnosed with ID/DD and autism and segregated in six family members, all affected by severe psychiatric disorders including[]

  • Fibroma

    Among the few cases that have been reported, the gene appears to have a high level of penetrance with variable expressivity ( Young, Markowitz et al. 1989 ; Finical, Kane[] The rare gigantiform cementoma is related to an autosomal dominant inheritance in some cases whereas others are ‘‘familial’’.[]

  • Benign Migratory Glossitis

    Most forms of the disease show incomplete penetrance of the phenotype and variable expressivity of bleeding symptoms within families. [53] In contrast, the severe type 3 form[] It is transmitted as an autosomal-dominant trait and thus there may be evidence of a family history of excessive bleeding.[]

  • Moraxella Catarrhalis

    For example Bartonella quintana expresses up to 4 members of the variably expressed outer membrane protein (Vomp) family of autotransporters.[] Zhang P, Chomel BB, Schau MK, Goo JS, Droz S, et al. (2004) A family of variably expressed outer-membrane proteins (Vomp) mediates adhesion and autoaggregation in Bartonella[] […] focussed on autotransporter proteins from Mx, it is possible that similar recombination events leading to the transfer of functional motifs between related autotransporter family[]

  • Polycystic Ovary Syndrome

    Further, two or more phenotypes can be present in the same family suggesting some of these phenotypic differences reflect variable expression and/or penetrance of the same[] Several susceptibility loci for PCOS have been reproducibly mapped in family-based 13 and genome-wide association studies 14, 15.[]

  • Klebsiella

    Changes in membrane permeability and drug flux can be influenced by variable expression and regulation of the efflux pumps [ 11 ].[] Within the Enterobacteriaceae Gram-negative bacteria, a significant bacterial efflux pump family is the resistance nodulation division (RND) [ 6, 65, 106, 108 ].[]

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