期刊
ANNALS OF CLINICAL BIOCHEMISTRY
卷 49, 期 -, 页码 201-203出版社
SAGE PUBLICATIONS INC
DOI: 10.1258/acb.2011.011180
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The clinical presentation of a neonate with GRACILE-like syndrome, complex III deficiency and BCS1L mutations is discussed. This case is compared and contrasted with the original Finnish reports of GRACILE syndrome and other cases with a similar phenotype. This case confirms the pathogenicity of the BCS1L gene mutation c.166C>T, and provides support for the pathogenicity of a sequence variation, c.-588T>A, previously reported.
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