A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report

被引：0

作者：

Jose Cuenca Alcocel

Elena Criado Álamo

Elvira Salvador-Rupérez

Nuria Goñi Ros

Silvia Izquierdo Álvarez

Jose Luis Peña Segura

Ricardo González-Tarancón

机构：

[1] University Hospital Miguel Servet,Department of Clinical Biochemistry, Clinical Genetic Laboratory, Consultas Externas

[2] University Hospital Miguel Servet,Department of Pediatrics, Neurometabolism Unit

来源：

Egyptian Journal of Medical Human Genetics | / 24卷

关键词：

LAMSH; SOX5; p.(Tyr543IlefsTer14); Developmental delay; Neurodevelopmental delay;

D O I：

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摘要：

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