Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in theADNPgene-Reference-Cited by-同舟云学术

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Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in theADNPgene

Published:2017-04-13 Issue:6 Volume:173 Page:1631-1634
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Takenouchi Toshiki¹²,Miwa Tomoru³,Sakamoto Yoshiaki⁴,Sakaguchi Yuri¹²,Uehara Tomoko¹,Takahashi Takao²,Kosaki Kenjiro¹

Affiliation:

1. Center for Medical Genetics; Keio University School of Medicine; Tokyo Japan

2. Department of Pediatrics; Keio University School of Medicine; Tokyo Japan

3. Department of Neurosurgery; Keio University School of Medicine; Tokyo Japan

4. Department of Plastic and Reconstructive Surgery; Keio University School of Medicine; Tokyo Japan

Funder

Ministry of Health, Labour and Welfare

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome;Crisponi;Nature Genetics,2001

2. Identification of copy number variants associated with BPES-like phenotypes;Gijsbers;Human Genetics,2008

3. Handbook of Physical Measurements

4. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP;Helsmoortel;Nature Genetics,2014

5. Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene;Krajewska-Walasek;American Journal of Medical Genetics Part A,2016

Cited by 10 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. Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-06-17

2. Expanding the spectrum of ADNP‐related disorder‐Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene;American Journal of Medical Genetics Part A;2022-11-02

3. De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome;Genetics in Medicine;2020-11

4. Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype;The American Journal of Human Genetics;2020-09

5. Episignatures stratifying ADNP syndrome show modest correlation with phenotype;2020-04-02

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