ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance

BACKGROUND: ZNF445, as well as ZFP57, is involved in the postfertilization methylation maintenance of multiple imprinting-associated differentially methylated regions (iDMRs). Thus, ZNF445 pathogenic variants are predicted to cause multilocus imprinting disturbances (MLIDs), as do ZFP57 pathogenic v...

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Detalles Bibliográficos
Autores principales: Kagami, Masayo, Hara-Isono, Kaori, Matsubara, Keiko, Nakabayashi, Kazuhiko, Narumi, Satoshi, Fukami, Maki, Ohkubo, Yumiko, Saitsu, Hirotomo, Takada, Shuji, Ogata, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8157728/
https://www.ncbi.nlm.nih.gov/pubmed/34039421
http://dx.doi.org/10.1186/s13148-021-01106-5

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