Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum-Reference-Cited by-同舟云学术

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum

Published:2019-07 Issue:7 Volume:21 Page:1652-1656
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Emrick Lisa T.,Rosenfeld Jill A.,Lalani Seema R.,Jain Mahim,Desai Nilesh K.,Larson Austin,Kripps Kimberly,Vanderver Adeline,Taft Ryan J.,Bluske Krista,Perry Denise,Nagakura Honey,Immken LaDonna L.,Burrage Lindsay C.,Bacino Carlos A.,Belmont John W.,Lee Brendan

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-018-0358-0.pdf

Reference20 articles.

1. LIS1-associated lissencephaly/subcortical band heterotopia;Dobyns,1993

Cited by 7 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. Leukoencephalopathy caused by a 17p13.3 microdeletion;Journal of Neurology, Neurosurgery & Psychiatry;2023-09-21

2. Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome;American Journal of Medical Genetics Part A;2022-11-25

3. Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome;Genes;2022-11-23

4. Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results;European Journal of Obstetrics & Gynecology and Reproductive Biology;2022-07

5. Genetic disorders with central nervous system white matter abnormalities: An update;Clinical Genetics;2020-10-20