Supplementary Material for: Primary ovarian failure in addition to classical clinical features of Coats Plus Syndrome in a female carrying two truncating variants of CTC1

Supplementary Material for: Primary ovarian failure in addition to classical clinical features of Coats Plus Syndrome in a female carrying two truncating variants of CTC1

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 repli...

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Hlavní autor: Riquelme J. (11612020) (author)
Další autoři: Takada S. (11612023) (author), vanDijk T. (11612026) (author), Peña F. (11612029) (author), Boogaard M.W. (11612032) (author), vanDuyvenvoorde H.A. (11612035) (author), Pico-Knijnenburg I. (11612038) (author), Wit (11612041) (author), vanderBurg M. (11612044) (author), Mericq V. (4137625) (author), Losekoot M. (7482746) (author)
Vydáno: 2021
Témata:
Medicine
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