Caracterización molecular y descripción fenotípica de dos casos con aberraciones cromosómicas recíprocas en la región de los síndromes de microdeleción/microduplicación 3q29-Reference-Cited by-同舟云学术

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Caracterización molecular y descripción fenotípica de dos casos con aberraciones cromosómicas recíprocas en la región de los síndromes de microdeleción/microduplicación 3q29

Published:2015 Issue:06 Volume:61 Page:255
ISSN:0210-0010
Container-title:Revista de Neurología
language:es
Short-container-title:RevNeurol

Author:

Quintela García Inés,Barros Angueira Francisco,Pérez Gay Laura,Dacruz Álvarez David,Castro Gago Manuel,Carracedo Ángel,Eirís Puñal Jesús Manuel

Publisher

Viguera Editores SLU

Subject

Clinical Neurology,General Medicine

Cited by 9 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. 3q29 duplications: A cohort of 46 patients and a literature review;American Journal of Medical Genetics Part A;2024-02-29

2. Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome;Clinical Dysmorphology;2023-02-17

3. 3q29 microduplication syndrome: Clinical and molecular description of eleven new cases;European Journal of Medical Genetics;2020-12

4. New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry;American Journal of Medical Genetics Part A;2020-03-10

5. An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome;Cureus;2020-03-08

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