Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome-Reference-Cited by-同舟云学术

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Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome

Published:2020-05 Issue:5 Volume:42 Page:414-417
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Ahn Hyunji,Seo Go Hun,Keum Changwon,Heo Sun Hee,Kim Taeho,Choi Jeongmin,Yum Mi-Sun,Lee Beom Hee

Funder

Institute for Information & communications Technology Promotion

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference10 articles.

1. Deletion 22q13.3 syndrome;Phelan;Orphanet J Rare Dis,2008

2. SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders;Betancur;Mol Autism,2013

3. Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome;Bonaglia;PLoS Genet,2011

4. Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome);Reierson;J Psychiatr Res,2017

5. 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH;Dhar;Am J Med Genet A,2010

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. Ring Chromosome 22;Human Ring Chromosomes;2024

2. Updated consensus guidelines on the management of Phelan–McDermid syndrome;American Journal of Medical Genetics Part A;2023-07

3. Consensus recommendations on Epilepsy in Phelan-McDermid syndrome;European Journal of Medical Genetics;2023-06

4. Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome;European Journal of Medical Genetics;2023-05

5. Phelan–McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses;Frontiers in Pediatrics;2022-08-23

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