Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9-Reference-Cited by-同舟云学术

Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9

Published:2017-05-02 Issue:1 Volume:58 Page:33-35
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenital Anomalies

Author:

Shimbo Hiroko¹^ORCID,Oyoshi Tatsuki²,Kurosawa Kenji³^ORCID

Affiliation:

1. Clinical Research Institute; Kanagawa Children's Medical Center; Yokohama Japan

2. Department of Neurosurgery, Graduate School of Medical and Dental Sciences; Kagoshima University; Kagoshima Japan

3. Division of Medical Genetics; Kanagawa Children's Medical Center; Yokohama Japan

Funder

Ministry of Education, Culture, Sports, Science and Technology

Ministry of Health, Labour and Welfare

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cga.12216/fullpdf

Reference11 articles.

1. Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature;Busche;Eur J Med Genet,2011

2. Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome;Kress;Eur J Hum Genet,2006

3. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome;Howard;Nat Genet,1997

4. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1;Johnson;Am J Hum Genet,1998

5. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations;Paznekas;Am J Hum Genet,1998

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1. Facial Dysmorphology in Saethre-Chotzen Syndrome;Journal of Craniofacial Surgery;2021-07-08

2. Saethre-Chotzen syndrome: Case report and literature review;Dental and Medical Problems;2018-06-30