ArticleCold Spring Harbor molecular case studies2020
NAA10 variant in 38-week-gestation male patient: a case study.
Article in Cold Spring Harbor molecular case studies, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome.Molecular and cellular pediatrics · 2026Review
- Neuroanatomical features of NAA10 and NAA15-related neurodevelopmental syndromes.Journal of neuroradiology = Journal de neuroradiologie · 2025Article
- A repository of Ogden syndrome patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing.bioRxiv : the preprint server for biology · 2024Article
- Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention.American journal of medical genetics. Part A · 2024Article
- Longitudinal Adaptive Behavioral Outcomes in Ogden Syndrome by Seizure Status and Therapeutic Intervention.medRxiv : the preprint server for health sciences · 2024Article
- Evaluating possible maternal effect lethality and genetic background effects inbioRxiv : the preprint server for biology · 2024Article
- Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care.Biotech (Basel (Switzerland)) · 2024Review
- Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice.PloS one · 2024Article
- Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.European journal of human genetics : EJHG · 2023Article
- Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10-related neurodevelopmental syndrome.American journal of medical genetics. Part A · 2023Article
- Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.Human genetics · 2022Article
- Case report: Rare among ultrarare-Clinical odyssey of a new patient with Ogden syndrome.Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We present a male patient born at 38-wk gestation with rhizomelic shortening of extremities, hepatomegaly, ventriculomegaly, heart failure, severely depressed left ventricular function, biventricular hypertrophy, and biatrial enlargement. Additional physical findings included anteriorly displaced anus, vertebral anomalies, and brachydactyly. The patient's cardiac malformations led to persistent hypotension, sinus tachycardia, and multiorgan failure in the absence of arrhythmias. Rapid whole-exome sequencing was ordered on day of life (DOL) 8. The patient's family elected to withdraw supportive care, and he passed away that evening. Whole-exome sequencing returned posthumously and identified a variant in
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.