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Published in 2018 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000235
Abstract: Diencephalic syndrome is a disorder characterized by severe emaciation during childhood. The rarity of the disorder coupled with nonspecific symptomology means that there is often a protracted diagnostic journey. Here, we report a child who…
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Keywords:
case diencephalic;
genetics;
diencephalic syndrome;
lipodystrophy ... See more keywords