Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability
Author:
Affiliation:
1. Institut für Klinische Genetik; Medizinische Fakultät Carl Gustav Carus; Technische Universität Dresden; Dresden Germany
2. Klinik und Poliklinik für Kinder- und Jugendmedizin; Universitätsklinikum Carl Gustav Carus; Dresden Germany
Publisher
Wiley
Subject
Genetics(clinical),Genetics
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4. Direct generation of functional dopaminergic neurons from mouse and human fibroblasts;Caiazzo;Nature,2011
5. Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion;Chatron;Am J Med Genet Part A,2015
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2. Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion;Human Genome Variation;2019-10-18
3. Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene;Taiwanese Journal of Obstetrics and Gynecology;2019-03
4. Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction;Human Genetics;2018-05
5. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract;Journal of the American Society of Nephrology;2017-05-31
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