Interpretation of the <i>TRAPPC2</i> Mutation Found in a Child with Short Stature Using a Functional Study: A Case Report-Reference-Cited by-同舟云学术

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Interpretation of the TRAPPC2 Mutation Found in a Child with Short Stature Using a Functional Study: A Case Report

Published:2024-01-01 Issue:1 Volume:14 Page:52-55
ISSN:2093-6338
Container-title:Laboratory Medicine Online
language:en
Short-container-title:Lab Med Online

Author:

Lee SoJin¹,Kim Sujin²,Won Dongju¹^ORCID,Shin Saeam¹,Kwon Ahreum²^ORCID,Lee Seung-Tae¹,Choi Jong Rak¹

Affiliation:

1. Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea

2. Department of Pediatrics, Severance Children’s Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea

Funder

Yonsei University Health System

Publisher

Laboratory Medicine Online

Subject

General Medicine

Link

https://pdf.medrang.co.kr/LMO/2024/014/lmo-14-1-52.pdf

Reference7 articles.

1. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

2. X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred.

3. Gene Structure and Expression Study of the SEDL Gene for Spondyloepiphyseal Dysplasia Tarda

4. The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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