First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant-Reference-Cited by-同舟云学术

First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant

Published:2020-01-27 Issue:3 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Zhang Ping¹²^ORCID,Wu Bingbing¹²,Lu Yulan¹²,Ni Qi¹²,Liu Renchao¹²,Zhou Wenhao¹²³^ORCID,Wang Huijun¹²^ORCID

Affiliation:

1. Center for Molecular Medicine Children’s Hospital of Fudan University Shanghai China

2. Key Laboratory of Birth Defects Pediatrics Research Institute Children’s Hospital of Fudan University Shanghai China

3. Department of Neonates Key Laboratory of Neonatal Diseases Ministry of Health Children’s Hospital of Fudan University Shanghai China

Funder

Science and Technology Commission of Shanghai Municipality

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1144

Reference20 articles.

1. Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria

2. Normal phenotype with maternal isodisomy in a female with two isochromosomes: I(2p) and i(2q);Bernasconi F.;American Journal of Human Genetics,1996

3. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype

4. Congenital Myasthenic Syndromes in 2018

5. Congenital myasthenic syndromes: Pathogenesis, diagnosis, and treatment;Engel A. G.;The Lancet Neurology,2015

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