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Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability
Multilocus imprinting disturbances (MLID) have been associated with up to 12% of patients with Beckwith‐Wiedemann syndrome, Silver‐Russell syndrome, and pseudohypoparathyroidism type 1B (PHP1B). Single‐gene defects affecting components of the subcortical maternal complex (SCMC) have been reported in...
Autores principales: | Tayeh, Marwan K., DeVaul, Janean, LeSueur, Kristin, Yang, Chen, Bedoyan, Jirair K., Thomas, Peedikayil, Hannibal, Mark C., Innis, Jeffrey W. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321834/ https://www.ncbi.nlm.nih.gov/pubmed/35365979 http://dx.doi.org/10.1002/ajmg.a.62752 |
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