Publications by authors named "Edgar Wl Hau"
Article Synopsis
- Tuberous Sclerosis Complex (TSC) is a genetic disorder that affects multiple body systems and is inherited in an autosomal dominant manner, with a study analyzing 123 Chinese patients revealing pathogenic variants in 72.2% of cases.
- The majority of cases were sporadic (84.5%), with identified variants showing 35.7% in the TSC1 gene and 64.3% in the TSC2 gene, and many unique variants (41.9% being novel).
- Significant differences in symptoms were found based on gender and variant type, with males more likely to have subependymal nodules and females more likely to have renal angiomyolipoma, while patients with TSC2
Neurofibromatosis type 1 (NF1; OMIM #162200) is the commonest multi-systemic neurocutaneous tumour-predisposition disorder. It has an age-related complete penetrance but a highly variable inter- and intra-familial expressivity. This article summarizes the clinical features and molecular characteristics of 832 clinically or molecularly confirmed NF1 patients from 697 unrelated families recruited from a single centre in Hong Kong diagnosed during the 16 years period from Jan 2005 to Jan 2021.
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