Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei-Reference-Cited by-同舟云学术

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Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei

Published:2021-10-22 Issue:1 Volume:31 Page:50-53
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Sá Silva José,Alves José E.,Azevedo Soares Célia,Tkachenko Natália,Garrido Cristina

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference21 articles.

1. Mandibulofacial dysostosis with microcephaly: an expansion of the phenotype via parental survey.;Abell;Am J Med Genet A,2021

2. Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.;Gandomi;Clin Genet,2015

3. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.;Gordon;J Med Genet,2012

4. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.;Guion-Almeida;Clin Dysmorphol,2006

5. Mandibulofacial dysostosis with microcephaly: mutation and database update.;Huang;Hum Mutat,2016

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