Browsing by Autor "Andrew Dauber"
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Item type: Item , Two Patients with Severe Short Stature due to a <b><i>FBN1</i></b> Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia(Karger Publishers, 2016) Christiaan de Bruin; Courtney Finlayson; Mariana F.A. Funari; Gabriela A. Vasques; Bruna Lucheze Freire; Antônio Marcondes Lerário; Melissa Andrew; Vivian Hwa; Andrew Dauber; Alexander A.L. JorgeThis 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.