Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1-Reference-Cited by-同舟云学术

Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1

Published:2019 Issue:9 Volume:34 Page:
ISSN:1011-8934
Container-title:Journal of Korean Medical Science
language:en
Short-container-title:J Korean Med Sci

Author:

Kim Young A¹²^ORCID,Jin Hye Young³^ORCID,Kim Yoo-Mi⁴^ORCID

Affiliation:

1. Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.

2. Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.

3. Department of Pediatrics, Inje University Haeundae Paik Hospital, Busan, Korea.

4. Department of Pediatrics, Chungnam National University Hospital, Chungnam National University College of Medicine, Daejeon, Korea.

Publisher

Korean Academy of Medical Sciences

Subject

General Medicine

Link

https://synapse.koreamed.org/pdf/10.3346/jkms.2019.34.e54

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1. Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review;Frontiers in Neuroscience;2023-11-17

2. Models for IGHMBP2-associated diseases: an overview and a roadmap for the future;Neuromuscular Disorders;2021-12

3. Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1);Cellular and Molecular Life Sciences;2020-03-02