Compound heterozygosity for a variably penetrant variant and a variant of unknown significance in FLT4 causes fully penetrant Milroy's lymphedema.

Abstract excerpt

Milroy disease, known as primary congenital lymphedema, is characterized by chronic tissue swelling due to impaired lymphatic drainage and is inherited in an autosomal dominant manner. This study reports a rare case of Milroy disease affecting siblings from unaffected parents. A one-month-old female infant presented with swelling of the bilateral calf and the dorsum of the feet which had been present since birth....

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