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Neurology|March 3, 2017
Genetic heterogeneity of motor neuropathiesBoglarka Bansagi, Helen Griffin, Roger G Whittaker, et al.European Journal of Human Genetics : EJHG|March 23, 2017
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresKaren J Low, Morad Ansari, Rami Abou Jamra, et al.Journal of Medical Genetics|October 28, 2017
Expanding the clinical spectrum of recessive truncating mutations of <i>KLHL7</i> to a Bohring-Opitz-like phenotypeAnge-Line Bruel, Stefania Bigoni, Joanna Kennedy, et al.Pageof 2