Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome
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DOI: 10.1111/cge.13775
Abstract: UBE2A deficiency, that is, intellectual disability (ID) Nascimento type (MIM 300860), is an X‐linked syndrome characterized by developmental delay, moderate to severe ID, seizures, dysmorphisms, skin anomalies, and urogenital malformations. Forty affected subjects have been… read more here.
Keywords: mutational spectrum; ube2a deficiency; clinical mutational; refinement clinical ... See more keywords
Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
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DOI: 10.3390/genes10020135
Abstract: Ehlers-Danlos syndrome (EDS) comprises clinically heterogeneous connective tissue disorders with diverse molecular etiologies. The 2017 International Classification for EDS recognized 13 distinct subtypes caused by pathogenic variants in 19 genes mainly encoding fibrillar collagens and… read more here.
Keywords: expanding clinical; classical like; danlos syndrome; clinical mutational ... See more keywords
Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins
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DOI: 10.3390/genes12020295
Abstract: Xeroderma pigmentosum is a rare autosomal recessive skin disorder characterized by freckle-like dry pigmented skin, photosensitivity, and photophobia. Skin and ocular symptoms are confined to sun exposed areas of the body. Patients have markedly increased… read more here.
Keywords: ancestral origins; mutational spectrum; clinical mutational; xeroderma pigmentosum ... See more keywords