<i>NONO</i> ‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Genome sequencing facilitates thorough identification of the genetic causes of NONO-related syndrome. The recurrent variant p.Arg365Ter has been reported to cause variable cardiac abnormalities in different patients, suggesting that other genetic or non-genetic factors may contribute to the cardiac manifestations in NONO-related syndromes.

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Publication Details

Journal
Prenatal Diagnosis
Published
2026-02-18
DOI
https://doi.org/10.1002/pd.70097
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
Field-Weighted Citation Impact
0.00

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NONO ‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

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Prenatal Diagnosis
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NONO ‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

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article en

Abstract

Genome sequencing facilitates thorough identification of the genetic causes of NONO-related syndrome. The recurrent variant p.Arg365Ter has been reported to cause variable cardiac abnormalities in different patients, suggesting that other genetic or non-genetic factors may contribute to the cardiac manifestations in NONO-related syndromes.

Prenatal Diagnosis
Chinese University of Hong Kong (HK), Chinese University of Hong Kong, Shenzhen (CN), Xi’an Children’s Hospital (CN), Shanghai First Maternity and Infant Hospital (CN)
Chinese University of Hong Kong, Natural Science Basic Research Program of Shaanxi Province
Quality Education
Openalex Percentile: Top 50%
Genomic variations and chromosomal abnormalities
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