Setleis Syndrome: Genetic and Clinical Findings in a New Case With Epilepsy-Reference-Cited by-同舟云学术

Setleis Syndrome: Genetic and Clinical Findings in a New Case With Epilepsy

Published:2014-04 Issue:4 Volume:50 Page:389-391
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Giordano Lucio,Desnick Robert J.^ORCID,Molinaro Anna,Uliana Vera,Forzano Francesca,Edelmann Lisa,Nazarenko Irene,Pinelli Lorenzo,Accorsi Patrizia,Faravelli Francesca

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference8 articles.

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2. Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification;Cervantes-Barragán;J Med Genet,2011

3. Homozygous nonsense mutations in TWIST2 cause Setleis syndrome;Tukel;Am J Hum Genet,2010

4. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1;Slavotinek;Hum Mol Genet,2013

5. Familial focal facial dermal dysplasia;McGeoch;Arch Dermatol,1973

Cited by 3 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. The TWIST2 mutation causes Setleis syndrome: a rare clinical case report;Clinical Dysmorphology;2017-04

2. Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview;American Journal of Medical Genetics Part A;2016-05-19

3. Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III);American Journal of Medical Genetics Part A;2015-02-27