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   Articles with "frame deletion" as a keyword



In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy

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recommendations! Published in 2025 at "Human Genome Variation"

DOI: 10.1038/s41439-025-00309-z

Abstract: Adrenoleukodystrophy (ALD), an X-linked leukodystrophy caused by pathogenic variants in ABCD1, exhibits a broad range of phenotypes from childhood-onset cerebral forms to adult-onset adrenomyeloneuropathy (AMN). We report a rare in-frame ABCD1 deletion c.1469_71delTGG (p.Val490del) in… read more here.

Keywords: frame deletion; variant; deletion variant; adrenoleukodystrophy ... See more keywords
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A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family.

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recommendations! Published in 2018 at "Clinical Dysmorphology"

DOI: 10.1097/mcd.0000000000000220

Abstract: List of key featuresGottron type acrogeriaCutaneous atrophyFailure of growthAcro-osteolysisWormian bonesMandibular hypoplasiaOsteolysis of the claviclesCardiac sudden deathIntroductionAcrogeria (OMIM#201200) belongs to a heterogeneous group of premature aging syndromes (Gottron, 1940). The main char read more here.

Keywords: deletion zmpste24; novel frame; zmpste24 associated; frame deletion ... See more keywords

Heterozygous DSP in-frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities.

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recommendations! Published in 2024 at "Animal genetics"

DOI: 10.1111/age.13467

Abstract: Ichthyoses comprise a large heterogeneous group of skin disorders, characterized by generalized scaly and hyperkeratotic skin. We investigated a miniature poodle with early onset generalized scaling, dry and irregularly thickened skin, paw pad hyperkeratosis and… read more here.

Keywords: ichthyosis; frame deletion; deletion; syndromic ichthyosis ... See more keywords

A COL5A2 In-Frame Deletion in a Chihuahua with Ehlers-Danlos Syndrome

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recommendations! Published in 2022 at "Genes"

DOI: 10.3390/genes13050934

Abstract: Ehlers-Danlos syndrome (EDS) is a group of heterogeneous, rare diseases affecting the connective tissues. The main clinical signs of EDS are skin hyperextensibility, joint hypermobility, and skin fragility. Currently, the classification of EDS in humans… read more here.

Keywords: col5a2; deletion; danlos syndrome; classical eds ... See more keywords

Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7

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recommendations! Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23031053

Abstract: Basic helix–loop–helix (bHLH) transcription factors are evolutionarily conserved and structurally similar proteins important in development. The temporospatial expression of atonal bHLH transcription factor 7 (ATOH7) directs the differentiation of retinal ganglion cells and mutations in… read more here.

Keywords: transcription factor; transcription; basic domain; frame deletion ... See more keywords