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Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother

Beryl Royer-Bertrand,Sebastien Lebon, Ailsa Craig, Johanna Maeder,Laureane Mittaz-Crettol,Heidi Fodstad,Andrea Superti-Furga,Jean-Marc Good

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2023）

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关键词
spastic paraparesis,developmental disorder,truncating variant
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