Article
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.
European journal of human genetics : EJHG - 1 Jun 2021
Ghosh Shereen G, Breuss Martin W, Schlachetzki Zinayida, Chai Guoliang, Ross Danica, Stanley Valentina, Sonmez F Mujgan, Topaloglu Haluk, Zaki Maha S, Hosny Heba, Gad Shaimaa, Gleeson Joseph G
Abstract excerpt
HEAT repeats are 37-47 amino acid flexible tandem repeat structural motifs occurring in a wide variety of eukaryotic proteins with diverse functions. Due to their ability to undergo elastic conformational changes, they often serve as scaffolds at sites of protein interactions. Here, we describe four affected children from two families presenting with pontocerebellar hypoplasia manifest clinically with neonatal...
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