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-Reference-Cited by-同舟云学术

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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

Published:2011-09-19 Issue:10 Volume:48 Page:716-720
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Cervantes-Barragan D. E.,Villarroel C. E.,Medrano-Hernandez A.,Duran-McKinster C.,Bosch-Canto V.,del-Castillo V.,Nazarenko I.,Yang A.,Desnick R. J.

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 25 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. Mechanisms of Regulation of the CHRDL1 Gene by the TWIST2 and ADD1/SREBP1c Transcription Factors;Genes;2023-08-30

2. Genomic analysis and prediction of genomic values for distichiasis in Staffordshire bull terriers;Canine Medicine and Genetics;2023-07-24

3. De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III);American Journal of Medical Genetics Part A;2023-03-21

4. Focal facial dermal dysplasias type III: Two families with Setleis syndrome in China;The Journal of Dermatology;2022-06-17

5. Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells;International Journal of Environmental Research and Public Health;2021-02-19

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