The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant-Reference-Cited by-同舟云学术

The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant

Published:2020-09-09 Issue:11 Volume:182 Page:2788-2792
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Lee Cha Gon¹^ORCID,Seol Chang Ahn²³,Ki Chang‐Seok²

Affiliation:

1. Department of Pediatrics, Nowon Eulji Medical Center Eulji University Seoul Republic of Korea

2. GC Genome Yongin Gyeonggi‐do Republic of Korea

3. GC Labs Yongin Gyeonggi‐do Republic of Korea

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61828

Reference14 articles.

1. Refinement of the critical region of 1q41q42 microdeletion syndrome identifiesFBXO28as a candidate causative gene for intellectual disability and seizures

2. Prevalence and architecture of de novo mutations in developmental disorders

3. Analysis of the Human Tissue-specific Expression by Genome-wide Integration of Transcriptomics and Antibody-based Proteomics

4. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

5. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

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