Expanding the phenotypic spectrum of ARCN1-related syndrome-Reference-Cited by-同舟云学术

Expanding the phenotypic spectrum of ARCN1-related syndrome

Published:2022-06 Issue:6 Volume:24 Page:1227-1237
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Ritter Alyssa L.^ORCID,Gold Jessica,Hayashi Hiroshi,Ackermann Amanda M.,Hanke Stephanie,Skraban Cara,Cuddapah Sanmati,Bhoj Elizabeth,Li Dong,Kuroda Yukiko,Wen Jessica,Takeda Ryojun,Bibb Audrey,El Chehadeh Salima,Piton Amélie,Ohl Jeanine,Kukolich Mary K.,Nagasaki Keisuke,Kato Kohji,Ogi Tomoo,Bhatti Tricia,Russo Pierre,Krock Bryan,Murrell Jill R.,Sullivan Jennifer A.,Shashi Vandana,Stong Nicholas,Hakonarson Hakon,Sawano Kentaro,Torti Erin,Willaert Rebecca,Si Yue,Wilcox William Ross,Wirgenes Katrine Verena,Thomassen Kristian,Carlotti Katherine,Erwin Angelika,Lazier Joanna,Marquardt Thorsten,He Miao,Edmondson Andrew C.,Izumi Kosuke^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference12 articles.

1. ARCN1 mutations cause a recognizable craniofacial syndrome due to COPI-mediated transport defects;Izumi;Am J Hum Genet,2016

2. Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I;Reunert;Am J Med Genet A,2019

3. Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay;Tidwell;Cold Spring Harb Mol Case Stud,2020

4. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene;Sobreira;Hum Mutat,2015

5. Increased clinical sensitivity and specificity of plasma protein N-glycan profiling for diagnosing congenital disorders of glycosylation by use of flow injection–electrospray ionization–quadrupole time-of-flight mass spectrometry;Chen;Clin Chem,2019

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. SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis;Endocrine;2024-02-24

2. Neuromyelitis optica spectrum disorder in a pediatric patient with ARCN1-related syndrome: A coincidental co-morbidity or disease association?;Neuroimmunology Reports;2024

3. The Radiological and Histological Phenotype of Skeletal Abnormalities in Fetal ARCN1-Related Syndrome;Pediatric and Developmental Pathology;2023-12-03

4. Application of whole-exome sequencing technology in clarifying 269 cases of fetal skeletal system disorders;2023-10-31

5. The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic;Clinical Genetics;2023-10-18