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Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37.

A new neonatal syndrome characterized by intrauterine growth retardation, lactic acidosis, aminoaciduria, liver hemosiderosis, and early death was recently described. The pathogenesis of this disease is unknown. The mode of inheritance is autosomal recessive, and so far only 17 cases have been repor...

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Auteurs principaux: Visapää, I, Fellman, V, Varilo, T, Palotie, A, Raivio, K O, Peltonen, L
Format: Artigo
Langue:Inglês
Publié: 1998
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377549/
https://ncbi.nlm.nih.gov/pubmed/9792866
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