Variable phenotypic expression of Apert syndrome in monozygotic twins-Reference-Cited by-同舟云学术

Variable phenotypic expression of Apert syndrome in monozygotic twins

Published:2018-11-11 Issue:1 Volume:7 Page:54-57
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Dap Matthieu¹^ORCID,Bach-Segura Pascale²,Bertholdt Charline¹,Menzies Didier³,Masutti Jean-Pierre³,Klein Olivier⁴,Perdriolle-Galet Estelle¹,Lambert Laetitia⁵,Morel Olivier¹

Affiliation:

1. Department of Gynecology and Obstetrics; CHRU de Nancy; Nancy France

2. Department of Perinatal Radiology and Imaging; CHRU de Nancy; Nancy France

3. Department of Fetopathology; CHRU de Nancy; Nancy France

4. Department of Pediatric Neurosurgery; CHRU de Nancy; Nancy France

5. Department of Clinical Genetic; CHRU de Nancy; Nancy France

Publisher

Wiley

Subject

General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.1915/fullpdf

Reference10 articles.

1. Online Mendelian Inheritance in Man, OMIM® https://omim.org/

2. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome;Wilkie;Nat Genet,1995

3. Monozygotic twins with Apert syndrome;Breugem;Cleft Palate-Craniofacial J,2008

4. Analysis of phenotypic features and FGFR2 mutations in Apert syndrome;Park;Am J Hum Genet,1995

5. Diaphragmatic hernia as the first echographic sign in Apert syndrome;Witters;Prenat Diagn,2000

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1. Cleft Palate in Apert Syndrome;Journal of Developmental Biology;2022-08-11

2. Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?;Frontiers in Pediatrics;2021-11-26

3. Prenatal diagnosis of concomitant distal 5q duplication and terminal 10q deletion in a fetus with intrauterine growth restriction, congenital diaphragmatic hernia and congenital heart defects;Taiwanese Journal of Obstetrics and Gynecology;2020-01