Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation-Reference-Cited by-同舟云学术

Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation

Published:2020-02-05 Issue:5 Volume:182 Page:1223-1229
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Acosta‐Fernández Elizabeth¹,Zenteno Juan C.²³^ORCID,Chacón‐Camacho Oscar F.²⁴,Peña‐Padilla Christian¹,Bobadilla‐Morales Lucina¹⁵^ORCID,Corona‐Rivera Alfredo¹⁵,Romo‐Huerta Carmen O.⁶,Zepeda‐Romero Luz C.⁷,López‐Marure Eloy⁸,Acosta‐León Jorge⁹,García‐Cruz Diana⁵,Maciel‐Cruz Eric Jonathan⁵,Corona‐Rivera Jorge Román¹⁵^ORCID

Affiliation:

1. Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division"Dr. Juan I. Menchaca" Civil Hospital of Guadalajara Guadalajara Mexico

2. Department of GeneticsInstitute of Ophthalmology 'Conde de Valenciana’ Mexico City Mexico

3. Faculty of Medicine, Department of BiochemistryUNAM Mexico City Mexico

4. School of Medicine, Faculty of Superior Studies–IztacalaUNAM Tlalnepantla Mexico

5. University of Guadalajara Health Sciences University Center, Department of Molecular Biology and Genomics, "Dr. Enrique Corona‐Rivera" Institute of Human Genetics Guadalajara Mexico

6. Service of Ophthalmology, Division of Pediatrics‘Dr. Juan I. Menchaca’ Civil Hospital of Guadalajara Guadalajara Mexico

7. Service of Neonatal Ophthalmology, Division of Pediatrics“Fray Antonio Alcalde” Civil Hospital of Guadalajara Guadalajara Mexico

8. Service of Radiology, Pediatric Division“Dr. Juan I. Menchaca” Civil Hospital of Guadalajara Guadalajara Mexico

9. Service of Urology, Pediatric Division“Dr. Juan I. Menchaca” Civil Hospital of Guadalajara Guadalajara Mexico

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61506

Reference33 articles.

1. Imaging of Müllerian Duct Anomalies

2. Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome

3. Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph–ephrin boundaries

4. Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome

5. Control of Skeletal Patterning by EphrinB1-EphB Interactions

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3. Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman;Frontiers in Genetics;2023-01-04

4. Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation;Molecular Syndromology;2021

5. Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay;Frontiers in Pediatrics;2020-09-01