Familial evaluation reveals a distinct genetic cause in a large Spanish family with neurofibromatosis 1 and hypertrophic cardiomyopathy.
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DOI: 10.1016/j.gene.2020.144658
Abstract: Neurofibromatosis 1 (NF1) is an autosomal dominant disorder characterized by café-au-lait spots, intertriginous freckling, and multiple neurofibromas. Classically, it has been described that hypertrophic cardiomyopathy (HCM) may be a cardiovascular manifestation of neurofibromatosis 1, although… read more here.
Keywords: large spanish; hypertrophic cardiomyopathy; spanish family; neurofibromatosis ... See more keywords
Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene
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DOI: 10.1186/s12882-017-0735-y
Abstract: BackgroundAlport syndrome is an inherited renal disorder characterized by glomerular basement membrane lesions with hematuria, proteinuria and frequent hearing defects and ocular abnormalities. The disease is associated with mutations in genes encoding α3, α4, or… read more here.
Keywords: phenotype; col4a3 gene; syndrome; spanish family ... See more keywords
The Spanish Family Quality of Life Scales under and over 18 Years Old: Psychometric Properties and Families’ Perceptions
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DOI: 10.3390/ijerph17217808
Abstract: Background: Family quality of life (FQoL), just like individual quality of life, has become a priority outcome in the policies and services received by persons with intellectual and developmental disabilities (IDD) and their families. Conceptualizing,… read more here.
Keywords: family quality; quality life; quality; spanish family ... See more keywords