MED13L-related intellectual disability due to paternal germinal mosaicism

The MED13L-related intellectual disability or MRFACD syndrome (Mental retardation and distinctive facial features with or without cardiac defects; MIM # 616789) is one of the most common forms of syndromic intellectual disability with about a hundred cases reported so far. Affected individuals share...

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Detalles Bibliográficos
Autores principales: Bessenyei, Beáta, Balogh, István, Mokánszki, Attila, Ujfalusi, Anikó, Pfundt, Rolph, Szakszon, Katalin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744498/
https://www.ncbi.nlm.nih.gov/pubmed/34654706
http://dx.doi.org/10.1101/mcs.a006124

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744498/
https://www.ncbi.nlm.nih.gov/pubmed/34654706
http://dx.doi.org/10.1101/mcs.a006124

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