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Article

Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.

Brain & development - 1 Oct 2021

Choi Sun Ah, Lee Heun-Sik, Park Tae-Joon, Park Soojin, Ko Young Jun, Kim Soo Yeon, Lim Byung Chan, Kim Ki Joong, Chae Jong-Hee

Abstract excerpt

BACKGROUND: PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31.3 deletion syndrome and PURA syndrome. PURA-NDDs are characterized by neonatal hypotonia, moderate to severe global developmental delay/intellectual disability (GDD/ID), facial dysmorphism, epileptic seizures, nonepileptic movement disorders, and ophthalmological problems. PURA-NDDs have recently been identified and underestimated in...

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Source

Identifiers

PMID: 34116881
DOI: 10.1016/j.braindev.2021.05.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.PMID 34116881Read ↗

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