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hrp0094p2-308 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Evidence that non-syndromic familial tall stature has an oligogenic origin including ciliary genes

Weiss Birgit , Eberle Birgit , Roeth Ralph , de Bruin Christiaan , Lui Julian C , Paramasivam Nagarajan , Hinderhofer Katrin , van Duyvenvoorde Hermine A , Baron Jeffrey , Wit Jan M , Rappold Gudrun A ,

Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated b...

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ePoster

hrp0097rfc2.1 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Identification of novel genes including NAV2 associated with isolated tall stature

Weiss Birgit , Ott Tim , Vick Philipp , C. Lui Julian , Vogel Sebastian , Roeth Ralph , Waldmüller Stephan , Hoffmann Sandra , Baron Jeffrey , Wit jan-Maarten , Rappold Gudrun

Background: Very tall people attract a lot of attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear growth.Methods and Results: We studied a three-generation pedigree with several isolated (non-syndromic) tall members by whole exome sequencing; the tallest man had a height of 2...

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ESPE Abstracts

Evidence that non-syndromic familial tall stature has an oligogenic origin including ciliary genes

Identification of novel genes including NAV2 associated with isolated tall stature

BiosciAbstracts