A boy with trisomy 13 presenting with a subtle clinical picture and metopic synostosis

Author:

Unal Sevim,Celik Fatma Cakmak,Soy Derya,Ceylaner Serdar,Ceylaner Gulay

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference6 articles.

1. FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype;Chu;Am J Med Genet,1994

2. An unusual presentation of trisomy 13;Collinsworth;Am J Med Genet Part A,2008

3. Patau syndrome with a long survival. A case report;Durtae;Genet Mol Res,2004

4. Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism;Hsu;Am J Med Genet Part A,2007

5. Congenital malformations among liveborn infants with trisomies 18 and 13;Pont;Am J Med Genet Part A,2006

Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Metopic Suture Synostoses;Textbook of Pediatric Neurosurgery;2020

2. Metopic Suture Synostoses;Textbook of Pediatric Neurosurgery;2019

3. Trisomy 13 with the Absence of Gallbladder;Pediatrics & Neonatology;2013-10

4. Trisomy 13 (Patau syndrome) and craniosynostosis;American Journal of Medical Genetics Part A;2011-07-07

5. A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literature;American Journal of Medical Genetics Part A;2011-02-22

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