Whole genome sequencing of 45 Japanese patients with intellectual disability

Intellectual disability (ID) is characterized by significant limitations in both intellectual functioning and adaptive behaviors, originating before the age of 18 years. However, the genetic etiologies of ID are still incompletely elucidated due to the wide range of clinical and genetic heterogeneit...

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Vydáno v:	American journal of medical genetics. Part A Ročník 185; číslo 5; s. 1468 - 1480
Hlavní autoři:	Abe‐Hatano, Chihiro, Iida, Aritoshi, Kosugi, Shunichi, Momozawa, Yukihide, Terao, Chikashi, Ishikawa, Keiko, Okubo, Mariko, Hachiya, Yasuo, Nishida, Hiroya, Nakamura, Kazuyuki, Miyata, Rie, Murakami, Chie, Takahashi, Kan, Hoshino, Kyoko, Sakamoto, Haruko, Ohta, Sayaka, Kubota, Masaya, Takeshita, Eri, Ishiyama, Akihiko, Nakagawa, Eiji, Sasaki, Masayuki, Kato, Mitsuhiro, Matsumoto, Naomichi, Kamatani, Yoichiro, Kubo, Michiaki, Takahashi, Yoshiyuki, Natsume, Jun, Inoue, Ken, Goto, Yu‐Ichi
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Hoboken, USA John Wiley & Sons, Inc 01.05.2021 Wiley Subscription Services, Inc Wiley
Témata:	ADNP protein Adolescent Cognitive ability Dyrk Kinases Exons Genetic diversity Genetic Heterogeneity Genetic Predisposition to Disease Genome, Human - genetics Genomes Heterozygote Homeodomain Proteins - genetics Homozygote Humans Intellectual disabilities intellectual disability Intellectual Disability - epidemiology Intellectual Disability - genetics Intellectual Disability - pathology intellectual disability‐associated gene Intelligence Japan - epidemiology Life Sciences likely pathogenic variant Male Original pathogenic variant Phenotypes Protein Serine-Threonine Kinases - genetics Protein-Tyrosine Kinases - genetics PTEN protein Whole Genome Sequencing Japan whole genome sequencing likely pathogenic variant pathogenic variant intellectual disability-associated gene intellectual disability
ISSN:	1552-4825, 1552-4833, 1552-4833
On-line přístup:	Získat plný text
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