Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing-Reference-Cited by-同舟云学术

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Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

Published:2020-04-06 Issue:6 Volume:8 Page:1076-1080
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Yamoto Kaori¹,Saitsu Hirotomo²,Fujisawa Yasuko¹,Kato Fumiko,Matsubara Keiko³,Fukami Maki³,Kagami Masayo³^ORCID,Ogata Tsutomu¹³^ORCID

Affiliation:

1. Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan

2. Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan

3. Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.2826

Reference15 articles.

1. Clinical Utility of Array CGH for the Detection of Chromosomal Imbalances Associated with Mental Retardation and Multiple Congenital Anomalies

2. Exome sequencing as a tool for Mendelian disease gene discovery

3. Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing

4. FGFR1disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism

5. Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes

Cited by 5 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. A rare case of Coffin–Lowry syndrome accompanied by a copper-beaten skull appearance;Neurology Asia;2023-03

2. Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins;Medicina;2022-07-20

3. Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome;Journal of Investigative Medicine High Impact Case Reports;2022-01

4. Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of <b><i>EYA3/EFCAB4b</i></b>;Molecular Syndromology;2022

5. X-chromosome inactivation: implications in human disease;Journal of Genetics;2021-09-09

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