Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency-Reference-Cited by-同舟云学术

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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

Published:2005-09 Issue:7 Volume:7 Page:479-483
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Kurotaki Naohiro,Shen Joseph J.,Touyama Mayumi,Kondoh Tatsuro,Visser Remco,Ozaki Takao,Nishimoto Junji,Shiihara Takashi,Uetake Kimiaki,Makita Yoshio,Harada Naoki,Raskin Salmo,Brown Chester W.,Höglund Pia,Okamoto Nobuhiko,Lupski James R.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference47 articles.

Cited by 42 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. Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome;Neuropediatrics;2023-03-13

2. Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits;Genome Medicine;2022-09-30

3. Automated prediction of the clinical impact of structural copy number variations;Scientific Reports;2022-01-11

4. Sequencing individual genomes with recurrent genomic disorder deletions reveals genes for autosomal recessive traits;2021-02-22

5. Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development;Annals of Rehabilitation Medicine;2019-04-30

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