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A. Molecular pathology
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Limbs
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Mots-clés associés à l'article
Developmental pathway
monosomy X
low-set ears
rhizomelic limbs
bronchopulmonary foregut malformations
Macroscopical lesions
low-set ears
intraarticular cartilage
renal atrophy
cutaneous capillary malformation
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rhizomelic limbs
Etiology:
Pyruvate dehydrogenase deficiency
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