Heterozygous mutations inERFcause syndromic craniosynostosis with multiple suture involvement-Reference-Cited by-同舟云学术

Heterozygous mutations inERFcause syndromic craniosynostosis with multiple suture involvement

Published:2015-06-22 Issue:11 Volume:167 Page:2544-2547
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Chaudhry Ayeshah¹,Sabatini Peter²,Han Liping²,Ray Peter N.²,Forrest Christopher³,Bowdin Sarah¹

Affiliation:

1. Division of Clinical and Metabolic Genetics; Department of Paediatrics; The Hospital for Sick Children; Toronto Ontario Canada

2. Genome Diagnostics; Paediatric Laboratory Medicine; The Hospital for Sick Children; Toronto Ontario Canada

3. Division of Plastic and Reconstructive Surgery; Centre for Craniofacial Careand Research; The Hospital for Sick Children

Funder

Rare Disease Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference4 articles.

1. Craniosynostosis;Johnson;Eur J Hum Genet,2011

2. Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: Identification and characterization of novel TCF12 variants;Paumard-Hernández;Eur J Hum Genet,2014

3. Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis;Twigg;Nat Genet,2013

4. Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis;Wilkie;Pediatrics,2010

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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. Diagnosis and Classification of Craniosynostoses;Fundamentals of Craniofacial Malformations;2023

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

5. Intrafamilial variability in six family members with ERF ‐related craniosynostosis syndrome type 4;American Journal of Medical Genetics Part A;2022-07-19