A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference21 articles.
1. Monoallelic expression of the human FOXP2 speech gene;Adegbola;Proc Natl Acad Sci,2015
2. A chromosomal rearrangement in a child with severe speech and language disorder separates FOXP2 from a functional enhancer;Becker;Mol Cytogenet,2015
3. CTTNBP2, but not CTTNBP2NL, regulates dendritic spinogenesis and synaptic distribution of the striatin-PP2A complex;Chen;Mol Biol Cell,2012
4. Cortactin-binding protein 2 modulates the mobility of cortactin and regulates dendritic spine formation and maintenance;Chen;J Neurosci,2012
5. Genetics of nonsyndromic congenital hearing loss;Egilmez;Scientifica,2016
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1. A nonsense variant in the N‐terminal acetyltransferase NAA30 may be associated with global developmental delay and tracheal cleft;American Journal of Medical Genetics Part A;2023-06-30
2. A 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an individual with speech and language impairment suggests a possible positional effect;Clinical Case Reports;2022-11
3. Communication deficits in a case of a deletion in 7q31.1-q31.33 encompassing FOXP2;Clinical Linguistics & Phonetics;2022-06-14
4. Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene;Frontiers in Pediatrics;2021-08-20
5. Molecular mechanism of N-terminal acetylation by the ternary NatC complex;2021-02-02
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