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A case report of Hennekam syndrome with a mutation in the CCBE1 gene.

Clinical dysmorphology - 1 Apr 2024

Durak Taner, Karaer Derya, Karaer Kadri

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PMID: 38441203
DOI: 10.1097/MCD.0000000000000488

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Related research

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A case report of Hennekam syndrome with a mutation in the CCBE1 gene.PMID 38441203Read ↗

Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency.Semantic proximity Read ↗

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.Semantic proximity Read ↗

[Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1].Semantic proximity Read ↗

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.Semantic proximity Read ↗

Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.Semantic proximity Read ↗

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.Semantic proximity Read ↗

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome in an African patient and a novel mutation in the FLCN gene.Semantic proximity Read ↗

Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report.Semantic proximity Read ↗

A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.Semantic proximity Read ↗

Non-lethal non-mosaic male with Conradi-Hunermann syndrome caused by a novel EBP c.356T>G mutation.Semantic proximity Read ↗

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.Semantic proximity Read ↗

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