A case report of Hennekam syndrome with a mutation in the CCBE1 gene
Authors:
- 28 February 2024
- journal article
- research article
- Published by Wolters Kluwer Health in Clinical Dysmorphology
- Vol. 33 (2) , 87-89
Abstract
No abstract availableThis publication has 6 references indexed in Scilit:
- Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndromeAmerican Journal of Medical Genetics Part A, 2019
- Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3Human Molecular Genetics, 2017
- Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndromeHuman Genetics, 2014
- Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 MutationsMolecular Syndromology, 2012
- Mutations in CCBE1 cause generalized lymph vessel dysplasia in humansNature Genetics, 2009
- Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardationAmerican Journal of Medical Genetics, 1989