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List of works by Caroline Lekszas

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

scientific article published on 26 February 2020

Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.

scientific article published on 22 September 2017

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia

scientific article published on 21 November 2019

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

scientific article published in Nature Communications

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.

scientific article published on 7 June 2019

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

scientific article published in 2024

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