De Novo SYNCRIP Variant in a Korean Child with Developmental Delay, Epilepsy, and Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome-Like Craniofacial Dysmorphism

Variants in synaptotagmin binding cytoplasmic RNA interacting protein (SYNCRIP) (also known as HNRNPQ) have recently been implicated in neurodevelopmental disorders (NDDs).SYN-CRIP encodes a heterogeneous nuclear ribonucleoprotein that plays a key role in mRNA splicing, www.annchildneurol.org96

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Journal
Annals of Child Neurology
Published
2025-12-26
DOI
https://doi.org/10.26815/acn.2025.01186
Primary Topic
Craniofacial Disorders and Treatments
Type
article
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article

De Novo SYNCRIP Variant in a Korean Child with Developmental Delay, Epilepsy, and Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome-Like Craniofacial Dysmorphism

Jun Chul Byun
Annals of Child Neurology
Craniofacial Disorders and Treatments
article

De Novo SYNCRIP Variant in a Korean Child with Developmental Delay, Epilepsy, and Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome-Like Craniofacial Dysmorphism

Jun Chul Byun
article en

Abstract

Variants in synaptotagmin binding cytoplasmic RNA interacting protein (SYNCRIP) (also known as HNRNPQ) have recently been implicated in neurodevelopmental disorders (NDDs).SYN-CRIP encodes a heterogeneous nuclear ribonucleoprotein that plays a key role in mRNA splicing, www.annchildneurol.org96

Annals of Child NeurologyVol. 34(1)
Keimyung University (KR)
Zero hunger
Openalex Percentile: Top 25%
Craniofacial Disorders and Treatments
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De Novo SYNCRIP Variant in a Korean Child with Developmental Delay, Epilepsy, and Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome-Like Craniofacial Dysmorphism — Jun Chul Byun · Annals of Child Neurology (2025) | TGRS Research Map | TGRS