A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of <i>LMX1B</i>-Reference-Cited by-同舟云学术

A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B

Published:2024-07-23 Issue:6 Volume:44 Page:625-627
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Jang Joowon¹^ORCID,Im Hara¹^ORCID,Lee Hyesu¹^ORCID,Sung Hobin¹^ORCID,Cho Sung Im¹^ORCID,Lee Jee-Soo¹^ORCID,Ko Jung Min²^ORCID,Seong Moon-Woo¹³^ORCID

Affiliation:

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

2. Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul National University Children’s Hospital, Seoul, Korea

3. Cancer Research Institute, Seoul National University Hospital, Seoul, Korea

Publisher

Annals of Laboratory Medicine

Link

https://pdf.medrang.co.kr/ALM/2024/044/ALM044-06-625.pdf

Reference10 articles.

1. A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

2. 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

3. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

4. Microhomology-mediated end joining: Good, bad and ugly

5. A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome