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...

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Detalles Bibliográficos
Autores principales: Tayeh, Marwan K., DeVaul, Janean, LeSueur, Kristin, Yang, Chen, Bedoyan, Jirair K., Thomas, Peedikayil, Hannibal, Mark C., Innis, Jeffrey W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
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

Internet

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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