Article
Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing.
Prenatal diagnosis - 1 Nov 2022
Kurolap Alina, Mory Adi, Simchoni Sharon, Krajden Haratz Karina, Malinger Gustavo, Birnbaum Roee, Baris Feldman Hagit, Yaron Yuval
Abstract excerpt
FETAL PHENOTYPE: A couple of Ashkenazi Jewish descent was referred for an early anatomy scan at 14 + 2 weeks of gestation following a previous pregnancy termination due to posterior encephalocele and enlarged kidneys. The index pregnancy was also positive for several fetal abnormalities, including enlarged kidneys with cystic dysplasia and abnormal cerebellar morphology highly suggestive of Joubert syndrome....
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