Sex‐limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family-Reference-Cited by-同舟云学术

Sex‐limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family

Published:2019-08-23 Issue:5 Volume:96 Page:478-482
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Erickson Robert P.¹,Lai Li‐Wen²,Mustacich Debbie J.³,Bernas Michael J.³,Kuo Phillip H.⁴,Witte Marlys H.³^ORCID

Affiliation:

1. Department of PediatricsUniversity of Arizona College of Medicine Tucson Arizona

2. Department of PathologyUniversity of Arizona College of Medicine Tucson Arizona

3. Department of SurgeryUniversity of Arizona College of Medicine Tucson Arizona

4. Department of Medical Imaging (Nuclear Medicine)University of Arizona College of Medicine Tucson Arizona

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13622

Reference9 articles.

1. A novel mutation in CELSR1 is associated with hereditary lymphedema

2. The diagnosis and treatment of peripheral lymphedema: 2016 Consensus Document of the International Society of Lymphology;Executive Committee;Lymphology,2016

3. Advances in Imaging of Lymph Flow Disorders

4. Genetic analysis of Wnt/PCP genes in neural tube defects;Chen Z;BMC Med Genet,2018

5. Celsr1, a Neural-Specific Gene Encoding an Unusual Seven-Pass Transmembrane Receptor, Maps to Mouse Chromosome 15 and Human Chromosome 22qter

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3. Cadherin EGF LAG Seven-Pass G-type Receptor 1 (CELSR1) in Primary Lymphedema;Journal of Venous Disorders;2024

4. A Practical Approach to the Diagnosis of Lymphedema: a Narrative Review;Dermatology Practical & Conceptual;2023-07-31

5. Updated consensus guidelines on the management of Phelan–McDermid syndrome;American Journal of Medical Genetics Part A;2023-07