ESPE Abstracts

ESPE Abstracts

Scientific Programme, ePosters & Abstracts

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61st Annual ESPE (ESPE 2023)

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Growth and syndromes (to include Turner syndrome)

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Fat, metabolism and obesity 1
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Diabetes and insulin 1

hrp0097fc4.1 | Growth and syndromes (to include Turner syndrome)

Heterozygous Null Mutations in FLNB as a Cause of apparent isolated Short Stature in Chinese Children

hrp0097fc4.2 | Growth and syndromes (to include Turner syndrome)

Genetic and phenotypic features of children with familial tall stature

hrp0097fc4.3 | Growth and syndromes (to include Turner syndrome)

Pathogenic variants in GHSR cause short stature and growth hormone neurosecretory dysfunction; results from a large case series

hrp0097fc4.4 | Growth and syndromes (to include Turner syndrome)

Growth failure in aggrecan haploinsufficiency is due to a decrease in growth plate matrix volume and hypertrophic cell size

hrp0097fc4.5 | Growth and syndromes (to include Turner syndrome)

From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary: The phenotypic spectrum of SALL4

hrp0097fc4.6 | Growth and syndromes (to include Turner syndrome)

Persistence of Growth Promoting Effects in Infants and Toddlers with Achondroplasia: Results in Children Aged Over 2 Years Old from a Phase II Extension Study with Vosoritide

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ESPE Abstracts

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