Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p. Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome)

Clinical Genetics · Published 2026-03-20 · DOI 10.1111/cge.70166

Authors being retrieved — see the publisher record. https://doi.org/10.1111/cge.70166

Abstract

PubPorta does not have an abstract for this article yet.

Read the article at the publisher →

Publication details

Year: 2026

Related articles

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants · Clinical Genetics · 2026 · Same journal
Chorea‐Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant · Clinical Genetics · 2026 · Same journal
Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans · Clinical Genetics · 2026 · Same journal
Hereditary Polyneuropathy Experience of a Tertiary Single‐Center in Türkiye: Beyond the Tip of the Iceberg · Clinical Genetics · 2026 · Same journal
Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation · Clinical Genetics · 2026 · Same journal
Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval · Clinical Genetics · 2026 · Same journal
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes · Clinical Genetics · 2026 · Same journal
Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly · Clinical Genetics · 2026 · Same journal
Non‐Coding c.* 6C >T Variant in RBM8A Associated With Thrombocytopenia‐Absent Radius ( TAR ) Syndrome in Three Indian Patients · Clinical Genetics · 2026 · Same journal
From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy · Clinical Genetics · 2026 · Same journal