A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family.
Sign Up to like & getrecommendations! 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
A COL5A2 In-Frame Deletion in a Chihuahua with Ehlers-Danlos Syndrome
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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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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