Hydrocephaly associated with compound heterozygous alterations in TRAPPC12-Reference-Cited by-同舟云学术

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Hydrocephaly associated with compound heterozygous alterations in TRAPPC12

Published:2020-04-29 Issue:13 Volume:112 Page:1028-1034
ISSN:2472-1727
Container-title:Birth Defects Research
language:en
Short-container-title:Birth Defects Research

Author:

Gass Jennifer M.¹,Head Barbara B.²,Shields Sally M.²,Stevenson Roger E.¹^ORCID,Louie Raymond J.¹

Affiliation:

1. J.C. Self Research Institute of Human GeneticsGreenwood Genetic Center Greenwood South Carolina USA

2. Maternal‐Fetal Medicine Division, Department of Obstetrics and GynecologyMedical University of South Carolina Charleston South Carolina USA

Publisher

Wiley

Subject

Health, Toxicology and Mutagenesis,Developmental Biology,Toxicology,Embryology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/bdr2.1699

Reference8 articles.

1. HEREDITARY STENOSIS OF THE AQUEDUCT OF SYLVIUS AS A CAUSE OF CONGENITAL HYDROCEPHALUS

2. A missense mutation confirms the L1 defect in X–linked hydrocephalus (HSAS)

3. Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

4. A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

Cited by 3 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. Biochemical Structure and Function of TRAPP Complexes in the Cardiac System;JACC: Basic to Translational Science;2023-12

2. Two Novel Variants Associated with Brain Abnormalities in Clinical Suspicion of Arthrogryposis and Similar Phenotype in Three Children: Challenges in Offering Prenatal Diagnosis;The Journal of Obstetrics and Gynecology of India;2023-09-01

3. RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12‐related disorder;American Journal of Medical Genetics Part A;2023-03-30

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