Clinical utility gene card for: CHARGE syndrome - update 2015.

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

Who cites it

10 citing papers in PubMed.

1. A case report of CHARGE syndrome caused by a de novoSAGE open medical case reports · 2024
   Article
2. Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.The Journal of clinical endocrinology and metabolism · 2022
   Article
3. Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth.Archives of endocrinology and metabolism · 2020
   Article
4. A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.Italian journal of pediatrics · 2020
   Article
5. A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.Annals of pediatric endocrinology & metabolism · 2019
   Article
6. Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2018
   Article
7. New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.American journal of medical genetics. Part C, Seminars in medical genetics · 2017
   Review
8. Reproductive endocrine phenotypes relating to CHD7 mutations in humans.American journal of medical genetics. Part C, Seminars in medical genetics · 2017
   Review
9. Newly Emerging Feeding Difficulties in a 33-Year-Old Adult With CHARGE Syndrome.Journal of clinical medicine research · 2016
   Article
10. CHARGE syndrome: A case report of two new CDH7 gene mutations.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
    Article

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

Authors and funding

4 authors.

Funding

No grant is acknowledged in the PubMed record.

Abstract

PubMed holds no abstract for this paper.

Indexed as