PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review

PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PRUNE1 on chromosome 1q21. Here, We report on 12-mon...

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Detalles Bibliográficos
Autores principales: Alfadhel, Majid, Nashabat, Marwan, Hundallah, Khalid, Al Hashem, Amal, Alrumayyan, Ahmed, Tabarki, Brahim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2018
Materias:
Other
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5768269/
https://www.ncbi.nlm.nih.gov/pubmed/29372174
http://dx.doi.org/10.1177/2329048X17752237

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5768269/
https://www.ncbi.nlm.nih.gov/pubmed/29372174
http://dx.doi.org/10.1177/2329048X17752237

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