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List of works by Lucia Sentchordi

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

scientific article

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

scientific article published on 21 February 2018

Identification of the third FGF9 variant in a girl with multiple synostosis - comparison of the genotype:phenotype of FGF9 variants in humans and mice

scientific article published on 02 November 2020

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.

scientific article published on 29 June 2017

New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

scientific article published on 13 September 2010

Scrotal hair in infants

scientific article published in February 2008

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