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Ending a diagnostic odyssey—The first case of Takenouchi–Kosaki syndrome in an African patient

2 Mar 2021

Abstract excerpt

Abstract First reported case of Takenouchi–Kosaki syndrome in an African patient with a de novo likely pathogenic missense variant identified in the CDC42 gene.

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Identifiers

PMID: 33936654
DOI: 10.1002/ccr3.3966

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Related research

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Ending a diagnostic odyssey—The first case of Takenouchi–Kosaki syndrome in an African patientPMID 33936654Read ↗

The first CDC42 variant (p.Arg68Gln) associated with Takenouchi-Kosaki syndrome in Asia: a case report and literature reviewSemantic proximity Read ↗

Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature.Semantic proximity Read ↗

A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome.Semantic proximity Read ↗

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case reportSemantic proximity Read ↗

A New Patient with NOCARH Syndrome Due to CDC42 Defect.Semantic proximity Read ↗

Aplasia cutis congenita in a CDC42-related developmental phenotype.Semantic proximity Read ↗

Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys MutationSemantic proximity Read ↗

Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans modelSemantic proximity Read ↗

Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum.Semantic proximity Read ↗

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Blepharo-cheilo-dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes.Semantic proximity Read ↗

Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.Semantic proximity Read ↗

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