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Fig. 1 | BMC Medical Genetics

Fig. 1

From: FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

Fig. 1

Schematic representation of the FLNA domains and repeats and overview of FLNA mutations and their associated disorders. Each FLNA-related disorder and their causal mutations in live-born males is depicted separately. The four diseases indicate the primary clinical expression of the patients. Mutations in bold and underlined are identified within the current paper. Mutations indicated with # occur together in patients of the same family

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