Article
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.
European journal of medical genetics - 1 Apr 2016
Laquerriere Annie, Gonzales Marie, Saillour Yoann, Cavallin Mara, Joyē Nicole, Quēlin Chloé, Bidat Laurent, Dommergues Marc, Plessis Ghislaine, Encha-Razavi Ferechte, Chelly Jamel, Bahi-Buisson Nadia, Poirier Karine
Abstract excerpt
Tubulinopathies are increasingly emerging major causes underlying complex cerebral malformations, particularly in case of microlissencephaly often associated with hypoplastic or absent corticospinal tracts. Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. We report on an early foetal...
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