First cardiac manifestation of hypotonia-cystinuria syndrome.

Abstract excerpt

Hypotonia-cystinuria syndrome is a very rare autosomal recessive contiguous gene deletion syndrome of PREPL and SLC3A1 at 2p21 with neuromuscular and neuroendocrinologic presentation. We report a two-year-six-month-old affected female infant and her five-month-old affected brother with a novel homozygous deletion in SLC3A1 and PREPL gene. Both of siblings had mild facial dysmorphism, hypotonia, feeding problems,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Transport Systems, Basic
• Share to Amino Acid Transport Systems, Neutral