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Biallelic Splicing Variant c.12479+ 3A >G in FAT4 Causes Hennekam Lymphangiectasia‐Lymphedema Syndrome 2

Year: 2026

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.70166

Authors: Selinda Mascarenhas, Yashavi Gupta, Akhil K. A., Shruti Pande, Huzail Shaikh, Katta Mohan Girisha, Periyasamy Radhakrishnan, Anju Shukla

Institutions: Manipal Academy of Higher Education, Kasturba Medical College, Manipal, Sultan Qaboos University, University of Basel, University Hospital of Basel

Language: English

Topic: Lymphatic System and Diseases

Subfield: Oncology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: The Wellcome Trust DBT India Alliance

Award: Center for Rare Disease Diagnosis, Research and Training

OpenAlex ID: W7154680248

FWCI:

Cites: 16

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