Disease: Hennekam lymphangiectasia lymphedema syndrome
- A case report of Hennekam syndrome with a mutation in the CCBE1 gene
- A complicated case study: Hennekam syndrome
- A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis
- A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression
- A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature
- An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3
- An approach to familial lymphoedema
- Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome
- Cation Channelopathies: Novel Insights into Generalized Lymphatic Dysplasia
- CCBE1 enhances lymphangiogenesis via A disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation
- CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops
- CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis
- Cutaneous manifestations and massive genital involvement in Hennekam syndrome
- Dachsous1-Fat4 Signaling Controls Endothelial Cell Polarization During Lymphatic Valve Morphogenesis-Brief Report
- Enigmatic lymphatic diseases involving the lung
- Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome
- Exploration of Potential Immunodeficiency Unveils Hennekam Lymphangiectasia-Lymphedema Syndrome
- Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants
- Exudative enteropathy in congenital lymphedema-lymphangiectasia syndrome
- Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report
- Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain
- Genetics and lymphoedema: a future yet to be fully discovered
- h<em>CALCRL</em> mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia
- Hennekam lymphangiectasia syndrome: A rare case of primary lymphedema
- Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome
- Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency
- Hennekam Syndrome: A Case Report
- Hennekam syndrome: a case report and review of literature
- Hennekam syndrome: a rare and often ignored cause of intestinal lymphangiectasia
- Hennekam syndrome: a rare cause of primary lymphedema
- Hennekam syndrome: an uncommon cause of chylous ascites and intestinal lymphangiectasia in the tropics
- In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function
- Indocyanine green lymphography and lymphaticovenous anastomosis for generalized lymphatic dysplasia with pleural effusion and ascites in neonates
- Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation
- Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome
- Intestinal Lymphangiestasia With Hennekam Syndrome
- Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3
- Neuron-specific knockdown of the Drosophila fat induces reduction of life span, deficient locomotive ability, shortening of motoneuron terminal branches and defects in axonal targeting
- Novel clinical phenotype of generalised lymphatic dysplasia in a neonate: a missed diagnosis
- Novel mutation in <em>CCBE 1</em> as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1
- Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1
- Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
- Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia
- Piezo channels
- Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis
- Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings
- Variable clinical presentation in primary lymphoedema: report of two cases
- Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1
- Warty Fingers and Toes in a Child With Congenital Lymphedema: Elephantiasis Nostras Verrucosa