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List of works by Clémence Vanlerberghe

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

scientific article published on 28 November 2017

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

scientific article

Genetics of patella hypoplasia/agenesis.

scientific article published on 11 January 2018

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

scientific article published on 14 December 2018

Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient

scientific article published on 02 January 2020

Small patella syndrome: New clinical and molecular insights into a consistent phenotype

scientific article published in December 2017

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