Intrafamilial variability in six family members with <i>ERF</i> ‐related craniosynostosis syndrome type 4-Reference-Cited by-同舟云学术

Intrafamilial variability in six family members with ERF ‐related craniosynostosis syndrome type 4

Published:2022-07-19 Issue:10 Volume:188 Page:2969-2975
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Moddemann Marina K.¹^ORCID,Kieslich Matthias²,Koenig Rainer¹

Affiliation:

1. Department of Human Genetics Bioscientia Institute for Medical Diagnostics Ingelheim Germany

2. Division of Neurology, Neurometabolics and Prevention, Department of Pediatrics, Faculty of Medicine University of Frankfurt Frankfurt am Main Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62900

Reference19 articles.

1. Obesity in Children: Definition, Etiology and Approach

2. Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in theERFgene

3. Epigenetic inactivation of ERF reactivates γ-globin expression in β-thalassemia

4. How to provide a structured clinical assessment of a patient with overweight or obesity

5. A population-based study of craniosynostosis in metropolitan Atlanta, 1989–2003

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1. Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis;European Journal of Human Genetics;2024-06-01

2. Noonan syndrome‐like phenotype associated with an ERF frameshift variant;American Journal of Medical Genetics Part A;2024-05-14

3. ERF-related craniosynostosis and surgical management in the paediatric cohort;Child's Nervous System;2022-10-08