De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review-Reference-Cited by-同舟云学术

De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review

Published:2023-10 Issue: Volume:111 Page:138-146
ISSN:1059-1311
Container-title:Seizure: European Journal of Epilepsy
language:en
Short-container-title:Seizure: European Journal of Epilepsy

Author:

Chen Hui,Chen Yong,Wu Huaping,Qiu Xiaolu,Yu Xiongying,Wang Ruiyan,Zhong Jianmin,Peng Jing

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology,General Medicine

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4. Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2);Potocki;Am J Med Genet,1996

5. Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects;Wuyts;Eur J Hum Genet,2004

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