先前推测畸形父女体内的SALL4基因突变是由沙利度胺诱变所致。 - Suppr

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超能文献

Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide.

作者信息

Kohlhase Jürgen, Holmes Lewis B

机构信息

Institute for Human Genetics and Anthropology, University of Freiburg, Freiburg, Germany.

出版信息

Birth Defects Res A Clin Mol Teratol. 2004 Aug;70(8):550-1. doi: 10.1002/bdra.20050.

DOI:10.1002/bdra.20050

PMID:15329836

Abstract

摘要

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Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide.先前推测畸形父女体内的SALL4基因突变是由沙利度胺诱变所致。

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Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.SALL4基因中的新突变进一步证明了肢端-肾-眼综合征和冈田弘综合征是等位基因实体，并扩展了表型谱。

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Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.20号染色体上SALL4基因座的突变会导致一系列临床上重叠的表型，包括冲弘综合征、心手综合征、肢-肾-眼综合征，以及之前报道的代表沙利度胺胚胎病的患者。

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Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.20号染色体长臂13.13区至13.2区的多基因缺失，包括SALL4基因缺失，会导致大井弘综合征的表型扩展并伴有发育迟缓。

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