Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X , DDX3X , and CASK genes in two patients with syndromic intellectual disability-Reference-Cited by-同舟云学术

Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X , DDX3X , and CASK genes in two patients with syndromic intellectual disability

Published:2022-03-03 Issue:6 Volume:188 Page:1836-1847
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Catino Giorgia¹^ORCID,Genovese Silvia¹^ORCID,Tommaso Silvia¹,Orlando Valeria¹,Petti Maria Teresa²,Bernardi Margherita Lucia²^ORCID,Dallapiccola Bruno³,Novelli Antonio¹,Ulgheri Lucia⁴,Piscopo Carmelo²,Alesi Viola¹

Affiliation:

1. Laboratory of Medical Genetics, Translational Cytogenomics Research Unit Bambino Gesù Children Hospital, IRCCS Rome Italy

2. Department of Molecular Medicine and Medical Biotechnology University Federico II Naples Italy

3. Genetics and Rare Disease Research Division Bambino Gesu Children Hospital, IRCCS Rome Italy

4. Department of Biomedical Sciences, Clinical Genetics Service Azienda Ospedaliero‐Universitaria Sassari Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62694

Reference62 articles.

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2. Control of AMPK-related kinases by USP9X and atypical Lys29/Lys33-linked polyubiquitin chains

3. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen‐receptor gene correlates with X chromosome inactivation;Allen R. C.;The American Journal of Human Genetics,1992

4. X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females

5. Deletion of CASK in mice is lethal and impairs synaptic function

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