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Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum
Victoria Parker
,
Kim Keppler-Noreuil
,
Laurence Faivre
,
Maxime Luu
,
Neal Oden
et al.
Article dans une revue
hal-02000984v1
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Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex
Jennifer Brun
,
Christine Chiaverini
,
Caroline Devos
,
Stéphanie Leclerc-Mercier
,
Juliette Mazereeuw-Hautier
et al.
Article dans une revue
hal-01577342v1
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Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
Mustapha Amyere
,
Nicole Revencu
,
Raphaël Helaers
,
Eleonore Pairet
,
Eulalia Baselga
et al.
Article dans une revue
hal-01726521v1
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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Paul Kuentz
,
Judith Saint-Onge
,
Yannis Duffourd
,
Jean-Benoît Courcet
,
Virginie Carmignac
et al.
Article dans une revue
hal-01560452v1
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The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature
Didier Bessis
,
Michèle Bigorre
,
Nausicaa Malissen
,
Guillaume Captier
,
Christine Chiaverini
et al.
Article dans une revue
hal-01579056v1
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Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation
Maud Jordan
,
Virginie Carmignac
,
Arthur Sorlin
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Paul Kuentz
,
Juliette Albuisson
et al.
Article dans une revue
hal-03158801v1
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