Paul Kuentz

Besancon, France

Last Updated: 09/26/2026

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Found 107 publications

A late appearance case of TEK-related mucocutaneous venous malformation treated by Nd:Yag laser.

A late appearance case of TEK-related mucocutaneous venous malformation treated by Nd:Yag laser.

Journal: JAAD case reports

Published: May 25, 2026

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Journal: Clinical genetics

Published: May 21, 2026

Cutis Marmorata Telangiectatica Congenita: An Atypical Clinical Presentation of Vascular Anomalies.

Cutis Marmorata Telangiectatica Congenita: An Atypical Clinical Presentation of Vascular Anomalies.

Journal: Acta dermato-venereologica

Published: April 14, 2026

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: April 02, 2026

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB-Related Neurocutaneous Disease Spectrum.

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB-Related Neurocutaneous Disease Spectrum.

Journal: Clinical genetics

Published: March 16, 2026

Linear and whorled hypermelanosis: A multicentre retrospective cohort of 33 patients.

Linear and whorled hypermelanosis: A multicentre retrospective cohort of 33 patients.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: December 18, 2025

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.

Journal: BMJ open

Published: October 23, 2025

'McCune-Albright-like' syndrome associated with a post-zygotic KRAS variant.

'McCune-Albright-like' syndrome associated with a post-zygotic KRAS variant.

Journal: Clinical and experimental dermatology

Published: September 17, 2025

Double nonallelic somatic activating oncogene variants in a series of mosaic vascular anomalies.

Double nonallelic somatic activating oncogene variants in a series of mosaic vascular anomalies.

Journal: The British journal of dermatology

Published: June 26, 2025

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

Journal: Clinical genetics

Published: May 28, 2025

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Journal: Journal of medical genetics

Published: January 23, 2025

A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol.

A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol.

Journal: BMJ open

Published: January 14, 2025

Showing 1-12 of 107

Last Updated: 09/26/2026