A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family.
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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