Article

Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): an unconventional mitochondrial disorder

2020-12-21

Abstract excerpt

Mitochondrial disorders, although heterogeneous, are traditionally described as conditions characterized by encephalomyopathy, hypotonia and progressive postnatal organ failure. Here we provide a systematic review of Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA), a rare unconventional mitochondrial disorder which presents as a developmental disease; its main clinical features include microphthalm...

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Literature Corpus work: 22b5726a-a3df-51a8-b54f-9b8529fe2d21
DOI: 10.20944/preprints202012.0519.v1

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