PRUNE Syndrome Is a New Neurodevelopmental Disorder

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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Bibliographic Details
Main Authors: Majid Alfadhel MD, FCCMG, Marwan Nashabat MD, Khalid Hundallah MD, Amal Al Hashem MD, Ahmed Alrumayyan MD, Brahim Tabarki MD
Format: Article
Language:English
Published: SAGE Publishing 2018-01-01
Series:Child Neurology Open
Online Access:https://doi.org/10.1177/2329048X17752237