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-Reference-Cited by-同舟云学术

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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

Published:2008-06-11 Issue:4 Volume:46 Page:223-232
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Hannes F D,Sharp A J,Mefford H C,de Ravel T,Ruivenkamp C A,Breuning M H,Fryns J-P,Devriendt K,Van Buggenhout G,Vogels A,Stewart H,Hennekam R C,Cooper G M,Regan R,Knight S J L,Eichler E E,Vermeesch J R

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 226 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature;Frontiers in Genetics;2024-08-16

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. Novel copy number variations and phenotypes of infantile epileptic spasms syndrome;Clinical Genetics;2024-03-28

4. 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

5. Performance of noninvasive prenatal testing for twin pregnancies in South China;Journal of Assisted Reproduction and Genetics;2023-07-22

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