Article
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
Hormone research in paediatrics - 1 Jan 2021
Riquelme Joel, Takada Sanami, van Dijk Tessa, Peña Fernanda, Boogaard Merel W, van Duyvenvoorde Hermine A, Pico-Knijnenburg Ingrid, Wit Jan M, van der Burg Mirjam, Mericq Veronica, Losekoot Monique
Abstract excerpt
Coats plus syndrome is an autosomal recessive multisystemic and pleiotropic disorder affecting the eyes, brain, bone, and gastrointestinal tract, usually caused by compound heterozygous variants of the conserved telomere maintenance component 1 gene (CTC1), involved in telomere homeostasis and replication. So far, most reported patients are compound heterozygous for a truncating mutation and a missense variant....
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