☆ 4.2 Letter

New clinical features in an adult patient with Skraban-Deardorff syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)

A further case of Skraban-Deardorff syndrome and review of the literature

Sze Wing Shirley Cheng et al.

CLINICAL DYSMORPHOLOGY (2022)

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Article Genetics & Heredity

Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability

Jiacheng Hu et al.

Summary: Skraban-Deardorff syndrome is a rare genetic disease caused by mutations in the WDR26 gene. This study reports two Chinese patients with novel WDR26 mutations and expands the phenotype spectrum of the syndrome.

GENES (2022)

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Review Genetics & Heredity

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review

Lisa Pavinato et al.

Summary: De novo variants in the WDR26 gene have been linked to haploinsufficiency in Skraban-Deardorff syndrome, an ultra-rare autosomal dominant neurodevelopmental disorder. We describe cases of a child and an adult with this syndrome, providing genetic and clinical insights into this condition, as well as information on clinical management throughout various stages of life.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

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Article Genetics & Heredity

Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype

Auriane Cospain et al.

Summary: Skraban-Deardorff syndrome is a rare disorder characterized by intellectual deficiency, severe speech impairment, ataxic gait, and other symptoms. Patients should undergo comprehensive examinations to identify and address related issues promptly.

CLINICAL GENETICS (2021)

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Article Genetics & Heredity