First cardiac manifestation of hypotonia-cystinuria syndrome
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DOI: 10.1007/s11011-018-0226-2
Abstract: 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… read more here.
Keywords: manifestation hypotonia; cystinuria syndrome; cardiac manifestation; hypotonia cystinuria ... See more keywords