Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
BACKGROUND: Fetal akinesia deformation sequence syndrome (FADS) is a heterogeneous disorder characterised by fetal akinesia and developmental defects including, in some case, pterygia. Multiple pterygium syndromes (MPS) are traditionally divided into prenatally lethal and non-lethal (such as Escobar...
| Autors principals: | , , , , , , |
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| Format: | Journal article |
| Idioma: | English |
| Publicat: |
2009
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