A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review

The terminal 14q32 duplication has been reported often in association with other cytogenetic abnormalities, and individuals with this specific duplication showed varying degrees of developmental delay/intellectual disability (DD/ID) and growth retardation (GR), and distinct facial dysmorphisms. Here...

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Detalles Bibliográficos
Autores principales: Han, Ji Yoon, Park, Joonhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8472681/
https://www.ncbi.nlm.nih.gov/pubmed/34573370
http://dx.doi.org/10.3390/genes12091388

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8472681/
https://www.ncbi.nlm.nih.gov/pubmed/34573370
http://dx.doi.org/10.3390/genes12091388

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