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Browsing by Subject "Joubert syndrome, mortality, genetic disorder, brain malformation"
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Prabha Sinha; Shabnum Sibtain
(Bahria University Medical and Dental College Karachi, 2020-07-01)
Joubert’s syndrome is a rare genetic disorder. It is an autosomal recessive neuro-developmental disorder involving mid
and hind brain. This report describes a fetus at gestational age 16weeks+ 6 days, who presented with ...