A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1-Reference-Cited by-同舟云学术

A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

Published:2018-12-31 Issue:2 Volume:15 Page:97-101
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Park Jin-Mo¹,Lee Yun Jeong²,Park Jin-Sung³^ORCID

Affiliation:

1. Department of Neurology, Dongguk University College of Medicine, Gyeongju, Korea

2. Department of Pediatric Neurology, Kyungpook National University Hospital, Daegu, Korea

3. Department of Neurology, School of Medicine, Kyungpook National University Chilgok Hospital, Daegu, Korea

Funder

National Research Foundation of Kore

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2018/015/JGM015-02-08.pdf

Reference13 articles.

1. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

2. 1. Maas, S, Shaw, A, Bikker, H, and Hennekam, RC (2017). Trichorhinophalangeal syndrome. GeneReviews®

3. 2. [Internet], Adam, MP, Ardinger, HH, Pagon, RA, and Wallace, SE, ed. Seattle (WA): University of Washington [cited 2018 May 23]. [https://www.ncbi.nlm.nih.gov/books/NBK425926/]

4. Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome

5. Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer--Giedion syndrome

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