Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome
Author:
Affiliation:
1. Department of Pediatrics, Children's Hospital and Medical Center University of Nebraska Medical Center Omaha Nebraska USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63021
Reference16 articles.
1. Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile
2. De novo variants in sporadic cases of childhood onset schizophrenia
3. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile
4. Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients
5. Is it Williams syndrome?GTF2IRD1implicated in visual-spatial construction andGTF2Iin sociability revealed by high resolution arrays
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