Associated Papers
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
Marquez J et al.
Journal of Medical Genetics, 2021
[Some mutations affecting the eyes, collected as examples in the canton of Neuchatel and the Jura Bernois (congenital aniridia, universal albinism, congenital anophthalmos, total achromatopsia, oligophrenia associated with keratoconus, with ectopy of the crystalline, with congenital cataract and with atrophy of the optic nerve)].
PFANDLER U
Bulletin Der Schweizerischen Akademie Der Medizinischen Wissenschaften, 1950
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