Two Patients with Severe Short Stature due to a <b><i>FBN1</i></b> Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia

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dc.contributor.authorChristiaan de Bruin
dc.contributor.authorCourtney Finlayson
dc.contributor.authorMariana F.A. Funari
dc.contributor.authorGabriela A. Vasques
dc.contributor.authorBruna Lucheze Freire
dc.contributor.authorAntônio Marcondes Lerário
dc.contributor.authorMelissa Andrew
dc.contributor.authorVivian Hwa
dc.contributor.authorAndrew Dauber
dc.contributor.authorAlexander A.L. Jorge
dc.coverage.spatialBolivia
dc.date.accessioned2026-03-22T14:13:37Z
dc.date.available2026-03-22T14:13:37Z
dc.date.issued2016
dc.descriptionCitaciones: 27
dc.description.abstractThis report broadens the phenotypic spectrum of growth disorders associated with FBN1 mutations. Identical mutations give rise to a wide phenotypic spectrum, ranging from isolated short stature to a more classic picture of GD2 with cardiac involvement, distinct facial dysmorphisms and various skeletal anomalies.
dc.identifier.doi10.1159/000446476
dc.identifier.urihttps://doi.org/10.1159/000446476
dc.identifier.urihttps://andeanlibrary.org/handle/123456789/45277
dc.language.isoen
dc.publisherKarger Publishers
dc.relation.ispartofHormone Research in Paediatrics
dc.sourceCincinnati Children's Hospital Medical Center
dc.subjectShort stature
dc.subjectMissense mutation
dc.subjectMedicine
dc.subjectDysplasia
dc.subjectExome sequencing
dc.subjectInternal medicine
dc.subjectMutation
dc.subjectGenetics
dc.titleTwo Patients with Severe Short Stature due to a <b><i>FBN1</i></b> Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia
dc.typearticle

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