Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol
Simone Gasparini,
Simona Balestrini,
Luigi Francesco Saccaro
et al.
Abstract:COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2‐related manifestations is challenging, and there is no consensus on management and preventative strategies. Based on a systematic review of current evidence on COL4A1/2‐related disease, we developed a clinical questionnaire that we administered to 43 individuals from 23 distinct families carrying pathogenic variants. In this cohort, we extended ophthalmological and cardiological ex… Show more
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