Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome-Reference-Cited by-同舟云学术

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

Published:2014-12 Issue: Volume:2 Page:25-31
ISSN:2214-5400
Container-title:Meta Gene
language:en
Short-container-title:Meta Gene

Author:

Chacon-Camacho Oscar F.,Arce-Gonzalez Rocio,Villegas-Ruiz Vanessa,Pelcastre-Luna Erika,Uría-Gómez Conrado E.,Granillo-Alvarez Mariella,Zenteno Juan C.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference17 articles.

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3. Syndromes with unusual facies: well-known syndromes;Cohen,2001

4. Novel phenotypic pattern in X linked inheritance: craniofrontonasal syndrome maps to Xp22;Feldman;Hum. Mol. Genet.,1997

5. Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations;Grutzner;Oral Surg. Oral Med. Oral Pathol.,1988

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1. No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B;Clinical Case Reports;2023-05

2. Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation;American Journal of Medical Genetics Part A;2020-02-05

3. Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome;Journal of Human Genetics;2019-07-08

4. Report of a Family with Craniofrontonasal Syndrome and Wolff-Parkinson-White Syndrome: Is it a New Finding?;Arquivos Brasileiros de Cardiologia;2019

5. Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novelde novomutation ofEFNB1;Congenital Anomalies;2016-03