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Phosphoserine phosphatase deficiency in a patient with Williams syndrome.

Decreased serine levels were found in plasma and cerebrospinal fluid (CSF) of a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and facial dysmorphism suggestive of Williams syndrome. Fluorescence in situ hybridisation with an elastin gene probe indicated the presen...

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Detalhes bibliográficos
Main Authors: Jaeken, J, Detheux, M, Fryns, J P, Collet, J F, Alliet, P, Van Schaftingen, E
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051004/
https://ncbi.nlm.nih.gov/pubmed/9222972
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