产前隔离的先天性腹膜:一种罕见的临床呈现GATA4病原变异

Nea Tulonen1,2, Jussi Tallus2,3, Heidi Kaprio2,4

  • 1Tyks Laboratories, Genomics, Clinical Genetics, TYKS Turku University Hospital, Finland.

概括

在胎儿中发现了GATA4基因的新型致病变体,胎儿患有分离的先天性隔膜. 这一发现扩大了已知的GATA4基因突变谱.

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