Novel findings, mini‐review and dysmorphological characterization of 16p13.11 microduplication syndrome
Author:
Affiliation:
1. Medical Genetics Department Necmettin Erbakan University Hospital Konya Turkey
Publisher
Wiley
Subject
Developmental Biology,Developmental Neuroscience
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jdn.10188
Reference12 articles.
1. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
2. Familial aortic disease and a large duplication in chromosome 16p13.1
3. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
4. A chromosome 16p13.11 microduplication causes hyperactivity through dysregulation of miR-484/protocadherin-19 signaling
5. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
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1. What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication;Cell Biochemistry and Function;2024-09-12
2. Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report;BMC Pediatrics;2024-08-16
3. Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation;Global Medical Genetics;2023-12
4. 16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up;BMC Pregnancy and Childbirth;2022-12-07
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