Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia | Zendy

Christiaan de Bruin | Zendy; Courtney Finlayson | Zendy; Mariana F.A. Funari | Zendy; Gabriela A. Vasques | Zendy; Bruna Lucheze Freire | Zendy; Antônio Marcondes Lerário | Zendy; Melissa Andrew | Zendy; Vivian Hwa | Zendy; Andrew Dauber | Zendy; Alexander A.L. Jorge | Zendy

Open Access

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

Author(s) -

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. Jorge

Publication year - 2016

Publication title -

hormone research in paediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.816

H-Index - 89

eISSN - 1663-2826

pISSN - 1663-2818

DOI - 10.1159/000446476

Subject(s) - short stature , missense mutation , medicine , dysplasia , exome sequencing , mutation , genetics , gene , biology

Acromicric dysplasia (AD) and geleophysic dysplasia 2 (GD2) belong to the category of acromelic dysplasia syndromes, consisting of severe short stature, short hands and feet and skin thickening. Both can result from missense mutations in the transforming growth factor beta 5 domain of the fibrillin-1 gene (FBN1).

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research