Publications by authors named "M A Blazo"
Article Synopsis
- Recent research highlights the role of missense and truncating variants in the CLCN4 gene, affecting chloride/proton exchange and leading to neurocognitive issues in both genders.
- A comprehensive database was created from 90 families, identifying 41 unique and 18 recurrent CLCN4 variants, with detailed clinical data collected from 43 families.
- Functional studies in Xenopus oocytes revealed that 25% of the variants displayed loss-of-function characteristics, while others led to gain-of-function issues, indicating the complexities of assessing genetic pathogenicity and suggesting a need for better patient care and further research.
Cardiovascular manifestations of Marfan syndrome are associated with increased mortality, especially in the pediatric population. Early recognition is critical to long-term management. We present two cases of genetically defined "classical" Marfan syndrome presenting with severe infantile aortic root dilatation among siblings and discuss options for therapy.
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Purpose: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.
View Article and Find Full Text PDFLong QT Manifested as Giant and Inverted T Waves With a SCN5A Mutation.
J Cardiovasc Electrophysiol
December 2016