Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia-Reference-Cited by-同舟云学术

Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia

Published:2019-11-15 Issue:2 Volume:41 Page:476-486
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Heimer Gali¹²³^ORCID,Woerden Geeske M.⁴⁵^ORCID,Barel Ortal⁶⁷,Marek‐Yagel Dina⁸,Kol Nitzan⁶⁷,Munting Johannes B.⁴,Borghei Minoeshka⁴,Atawneh Osama M.⁹,Nissenkorn Andreea¹³,Rechavi Gideon³⁶⁷,Anikster Yair³⁸,Elgersma Ype⁴⁵,Kushner Steven A.⁵¹⁰^ORCID,Ben Zeev Bruria¹³

Affiliation:

1. Pediatric Neurology Unit, Edmond and Lily Safra Children's HospitalChaim Sheba Medical CenterRamat Gan Israel

2. The Pinchas Borenstein Talpiot Medical Leadership ProgramThe Chaim Sheba Medical CenterRamat Gan Israel

3. The Sackler School of MedicineTel Aviv UniversityTel Aviv Israel

4. Department of NeuroscienceErasmus University Medical CenterRotterdam The Netherlands

5. ENCORE Expertise Center for Neurodevelopmental DisordersErasmus University Medical CenterRotterdam The Netherlands

6. The Genomic Unit, Sheba Cancer Research CenterSheba Medical CenterTel‐Hashomer Israel

7. Wohl Institute for Translational MedicineSheba Medical CenterRamat Gan Israel

8. Metabolic Disease Unit, Edmond and Lily Safra Children's HospitalThe Chaim Sheba Medical CenterRamat Gan Israel

9. Pediatric DepartmentPRCS HospitalHebron Israel

10. Department of PsychiatryErasmus University Medical CenterRotterdam The Netherlands

Funder

Israel Science Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23945

Reference64 articles.

1. Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features

2. Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5 ‐related disease

3. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

4. A family-based association study and gene expression analyses of netrin-G1 and -G2 genes in schizophrenia

5. NTNG1mutations are a rare cause of Rett syndrome

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