A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort-Reference-Cited by-同舟云学术

A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort

Published:2019-12-24 Issue:2 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Li Shuo¹^ORCID,Miao Hui¹,Yang Hongbo¹,Wang Linjie¹,Gong Fengying¹,Chen Shi¹,Zhu Huijuan¹,Pan Hui¹

Affiliation:

1. Key Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing China

Funder

National Key Research and Development Program of China

CAMS Innovation Fund for Medical Science

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1066

Reference20 articles.

1. Cornelia de Lange syndrome

2. Ein fall von symmetrischer monodaktylie durch Ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaftogkeit, halsrippen, behaarung);Brachmann W.;Jarb Kinder Phys Erzie,1916

3. Sur un type nouveau de degenerescence (typus Amstelodamensis);Lange C.;Archives of Medical Enfants,1933

4. Behavioral and psychiatric manifestations in Cornelia de Lange syndrome

5. de Lange syndrome: A clinical review of 310 individuals

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1. Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome;Frontiers in Genetics;2022-11-23

2. Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report;Egyptian Journal of Medical Human Genetics;2021-04-15

3. Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome;Frontiers in Genetics;2021-02-09

4. A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort;Molecular Genetics & Genomic Medicine;2020-04

5. Identification of candidate genes for key fibre‐related QTL s and derivation of favourable alleles in Gossypium hirsutum recombinant inbred lines with G. barbadense introgressions;Plant Biotechnology Journal;2019-09-20