Article
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.
Fetal and pediatric pathology - 1 Dec 2022
Srivastava Somya, Manisha Rani, Dwivedi Aradhana, Agarwal Harshita, Saxena Deepti, Agrawal Vinita, Mandal Kausik
Abstract excerpt
Background: Antenatally detected occipital encephalocele and polycystic kidneys are a common presentation of ciliopathies like Joubert syndrome and Meckel Gruber syndrome which have considerable genetic and phenotypic overlap. Case reports: We describe 3 cases of antenatally diagnosed occipital encephalocele and enlarged kidneys with fetal autopsy, histopathology & exome sequencing results. A novel nonsense...
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