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Keywords: Brain calcifications
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Journal Articles
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1
Available to PurchaseJoel Riquelme, Sanami Takada, Tessa van Dijk, Fernanda Peña, Merel W. Boogaard, Hermine A. van Duyvenvoorde, Ingrid Pico-Knijnenburg, Jan M. Wit, Mirjam van der Burg, Veronica Mericq, Monique Losekoot
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2021) 94 (11-12): 448–455.
Published Online: 27 October 2021
... failure Brain calcifications Short stature The recessive inheritance filter revealed compound heterozygous variants in CTC1 . The maternally inherited variant (exon 5: c.724_727del p.(Lys242Leufs*41)) has been reported previously as a pathogenic variant [5]. The paternally inherited...
