Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: Further case of Hennekam syndrome with a severe phenotype
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference13 articles.
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2. Craniosynostosis and kidney malformation in a case of Hennekam syndrome
3. Syndrome de hennekam
4. Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome
5. Truncating mutations in FOXC2 cause multiple lymphedema syndromes
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1. Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency;Journal of Investigational Allergy and Clinical Immunology;2023-12-11
2. CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease;Immunological Reviews;2018-12-18
3. A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression;Journal of Clinical Immunology;2015-12-19
4. Diseases of the Pediatric Small Bowel;Textbook of Gastrointestinal Radiology, 2-Volume Set;2015
5. Primary Intestinal Lymphangiectasia: Four Case Reports and a Review of the Literature;Digestive Diseases and Sciences;2010-03-03
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