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hrp0089rfc10.1 | Late Breaking | ESPE2018

Patients with GH Insensitivity and IGF-1 Resistance Harbour Copy Number Variants Causing a Silver-Russell-Like Phenotype

Cottrell Emily , Chatterjee Sumana , Moore Gudrun , Ishida Miho , Greening James , Wright Neil , Bossowski Artur , Deeb Asma , Al Basiri Iman , Rose Steven , Mason Avril , Ahn Joowook , Bint Susan , Savage Martin , Metherell Louise A , Storr Helen L

Introduction: Our Centre is an international referral centre for genetic analysis of children with short stature (SS) and features of GH/IGF-1 resistance. Following candidate gene and whole exome sequencing, diagnoses for ~50% patients remained elusive. Copy number variation (CNV) has not previously been investigated in GH/IGF-1 resistance and we hypothesised that CNVs contribute to the phenotype in our undiagnosed cohort.Experimental Design and Methodol...

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ESPE Abstracts

Patients with GH Insensitivity and IGF-1 Resistance Harbour Copy Number Variants Causing a Silver-Russell-Like Phenotype

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