Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: Novel association withpectus carinatumin a molecularly confirmed case and review of the fetal phenotype-Reference-Cited by-同舟云学术

Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: Novel association withpectus carinatumin a molecularly confirmed case and review of the fetal phenotype

Published:2013-11-29 Issue:12 Volume:97 Page:774-780
ISSN:1542-0752
Container-title:Birth Defects Research Part A: Clinical and Molecular Teratology
language:en
Short-container-title:Birth Defects Research Part A: Clinical and Molecular Teratology

Author:

Konstantinidou Anastasia E.¹,Tasoulas Jason²,Kallipolitis Georgios³,Gasparatos Spyros²,Velissariou Voula⁴,Paraskevakou Helen¹

Affiliation:

1. 1st Department of Pathology; School of Medicine; University of Athens; Athens Greece

2. School of Dentistry; University of Athens; Athens Greece

3. 1st Department of Obstetrics and Gynecology; University of Athens, Alexandra Hospital; Athens Greece

4. Department of Genetics and Molecular Biology; General, Maternity, and Pediatric Clinic Mitera; Athens Greece

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Reference30 articles.

1. Prenatal mandibulofacial dysostosis (Treacher Collins Syndrome);Behrents;J Cleft Palate,1977

2. Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome;Bowman;Eur J Hum Genet,2012

3. Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature;Cohen;Am J Perinatol,1995

4. Midtrimester sonographic diagnosis of mandibulofacial dysostosis;Crane;Am J Med Genet,1986

5. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome;Dauwerse;Nat Genet,2011

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1. A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity;Clinical Genetics;2022-10-17

2. Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome;Taiwanese Journal of Obstetrics and Gynecology;2022-05

3. Extracraniofacial anomalies in Treacher Collins syndrome: A multicentre study of 248 patients;International Journal of Oral and Maxillofacial Surgery;2021-11

4. Visual diagnosis in utero: Prenatal diagnosis of Treacher-Collins syndrome using a 3D/4D ultrasonography;Taiwanese Journal of Obstetrics and Gynecology;2019-07

5. Treacher-Collins Syndrome;Atlas of Genetic Diagnosis and Counseling;2017