Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability-Reference-Cited by-同舟云学术

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Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability

Published:2011-05-26 Issue:9 Volume:48 Page:635-639
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Beneteau C.,Landais E.,Doco-Fenzy M.,Gavazzi C.,Philippe C.,Beri-Dexheimer M.,Bonnet C.,Vigneron J.,Walrafen P.,Motte J.,Leheup B.,Jonveaux P.

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Cited by 12 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. Notch directs telencephalic development and controls neocortical neuron fate determination by regulating microRNA levels;Development;2023-06-01

2. Molecular combing and its application in clinical settings;Molecular Cytogenetics;2022-11-16

3. Complex genomic rearrangements: an underestimated cause of rare diseases;Trends in Genetics;2022-11

4. Notch directs telencephalic development and controls neocortical neuron fate determination by regulating microRNA levels;2022-09-16

5. Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism;Taiwanese Journal of Obstetrics and Gynecology;2021-01

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