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Article

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

American journal of medical genetics. Part A - 1 Jun 2016

Krajewska-Walasek Małgorzata, Jurkiewicz Dorota, Piekutowska-Abramczuk Dorota, Kucharczyk Marzena, Chrzanowska Krystyna H, Jezela-Stanek Aleksandra, Ciara Elżbieta

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Identifiers

PMID: 27031564
DOI: 10.1002/ajmg.a.37641

Genes

ADNP

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Related research

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Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.PMID 27031564Read ↗

[Helsmoortel-Van der Aa syndrome due to hotspot mutation of ADNP gene and a literature review].Semantic proximity Read ↗

Mutation in the ADNP gene associated with Noonan syndrome features.Semantic proximity Read ↗

Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.Semantic proximity Read ↗

[Analysis of clinical features and ADNP variant in a child with Helsmoortel-Van der Aa syndrome].Semantic proximity Read ↗

The De Novo p.(Ser802Phe) Variant Causes Helsmoortel-Van der Aa/ ADNP Syndrome in a 24-Year-Old Woman and Is Predicted to Perturb ADNP-DNA Affinity.Semantic proximity Read ↗

Expanding the clinical spectrum and allelic heterogeneity in van den Ende–Gupta syndromeSemantic proximity Read ↗

[Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome].Semantic proximity Read ↗

Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.Semantic proximity Read ↗

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