Abstract
HCSresembles Prader-Willi syndrome (PWS), and is characterizedby generalized, severe hypotonia at birth, nephrolithiasis dueto cystinuria, growth hormone deficiency, minor facial dys-morphism, and failure to thrive, followed by hyperphagia andrapid weight gain in late childhood. The function of PREPLand how deletions of this gene cause this PWS-like disorder isstill unclear.
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