Associated Papers
Chitayat Syndrome: A Rare Case of Respiratory Distress in a Preterm Infant.
Živković G et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2026
Further delineation of ERF-related Chitayat syndrome.
Zhu F et al.
European Journal of Medical Genetics, 2025
[Chitayat syndrome due to variant of ERF gene: A case report and literature review].
Li G et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.
Micale L et al.
European Journal of Human Genetics : Ejhg, 2025
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML et al.
European Journal of Human Genetics : Ejhg, 2024
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Faas BHW et al.
Prenatal Diagnosis, 2023
Intrafamilial variability in six family members with ERF-related craniosynostosis syndrome type 4.
Moddemann MK et al.
American Journal of Medical Genetics. Part A, 2022
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Asif M et al.
Hgg Advances, 2022
Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant.
Yamada M et al.
Congenital Anomalies, 2021
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
Singh R et al.
Cold Spring Harbor Molecular Case Studies, 2021
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Suter AA et al.
American Journal of Medical Genetics. Part A, 2020
Radiography of Chitayat syndrome in an infant male.
Shin SH et al.
Radiology Case Reports, 2019
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
Glass GE et al.
American Journal of Medical Genetics. Part A, 2019
Craniofacial, orofacial and dental disorders: the role of the RAS/ERK pathway.
Vogiatzi A et al.
Expert Reviews in Molecular Medicine, 2019
Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene.
Caro-Contreras A et al.
American Journal of Medical Genetics. Part A, 2019
Clinical genetics of craniosynostosis.
Wilkie AOM et al.
Current Opinion in Pediatrics, 2017
Exome Sequencing of African-American Prostate Cancer Reveals Loss-of-Function ERF Mutations.
Huang FW et al.
Cancer Discovery, 2017
37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.
Keppler-Noreuil KM et al.
American Journal of Medical Genetics. Part A, 2017
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.
Balasubramanian M et al.
Journal of Medical Genetics, 2017