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hrp0084p2-468 | Growth | ESPE2015

Novel Heterozygous ACAN Mutations in Short Stature: Expanding the Clinical Spectrum

Sentchordi Lucia , Barraza Jimena , Rivera Carlos Ivan , Marcos M. Victoria , Sanchez M. Consuelo , Vallespin Elena , Pozo Angela del , Heath Karen E.

Background: Homozygous aggrecan (ACAN) mutations have been described in a few skeletal dysplasias whilst more recently, heterozygous ACAN mutations have been reported in few families presenting with idiopathic short stature with advanced bone maturation and premature growth cessation.Case presentation: We describe two novel heterozygous ACAN stop mutations, detected using a skeletal dysplasia NGS panel and confirmed by Sanger sequencing...

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hrp0086fc14.1 | Growth : Mechanisms | ESPE2016

Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic Spectrum

Gkourogianni Alexandra , Andrew Melissa , Crocker Melissa , Dunbar Nancy , Jorge Alexander , Lafranchi Stephen , Lalani Seema , Lebl Jan , Lin Lynda , Los Evan , Newbern Dorothee , Nowak Catherine , Olson Micah , Popovic Jadranka , Pruhova Stepanka , Quintos Jose Bernardo , Sentchordi Lucia , Baron Jeffrey , Nilsson Ola , Dauber Andrew

Background: Heterozygous mutations in the Aggrecan gene (ACAN) cause autosomal dominant short stature with bone age (BA) acceleration, and premature growth cessation.Objective and methods: To characterize the phenotypic spectrum, associated conditions and describe response to growth-promoting therapies, detailed clinical evaluation of 73 mutation positive individuals from 16 families different families with heterozygous ACAN mutations was perfor...

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ESPE Abstracts

Novel Heterozygous ACAN Mutations in Short Stature: Expanding the Clinical Spectrum

Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic Spectrum

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