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Article

Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance.

American journal of medical genetics. Part A - 1 May 2022

Pascolini Giulia, Gnazzo Maria, Novelli Antonio, Grammatico Paola

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35132768
DOI: 10.1002/ajmg.a.62679

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Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance.PMID 35132768Read ↗

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A Novel Epilepsy Phenotype in a Young Girl With a Pathogenic SETD5 Gene Variant.Semantic proximity Read ↗

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.Semantic proximity Read ↗

De novo variant of SETD1A causes neurodevelopmental disorder with dysmorphic facies: A case report.Semantic proximity Read ↗

The idic(15) syndrome: expanding the phenotype.Semantic proximity Read ↗

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.Semantic proximity Read ↗

Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry.Semantic proximity Read ↗

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Birt-Hogg-Dubé syndrome: diagnosis and managementSemantic proximity Read ↗

Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.Semantic proximity Read ↗

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