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European Journal of Medical Genetics|December 12, 2022
Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicismFederico Di Rocco, Maria Lucia Licci, Aurore Garde, et al.
Journal of the American Academy of Dermatology|July 13, 2011
Cutaneous B-cell lymphoblastic lymphoma in children: a rare diagnosisOlivia Boccara, Etty Laloum-Grynberg, Géraldine Jeudy, et al.
JAMA Dermatology|November 15, 2013
Clinical and immunologic factors associated with bullous pemphigoid relapse during the first year of treatment: a multicenter, prospective studyFanny Fichel, Coralie Barbe, Pascal Joly, et al.
Orphanet Journal of Rare Diseases|August 7, 2021
Health care transition for patients with vascular malformations: a French multicenter cross-sectional studyCamille Vermersch, Olivia Boccara, Christine Chiaverini, et al.
The Journal of Pediatrics|December 21, 2010
Medial fronto-facial capillary malformationsLaura Sillard, Christine Léauté-Labreze, Juliette Mazereeuw-Hautier, et al.
Gastroenterology|November 3, 2004
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction diseaseSmail Hadj-Rabia, Lekbir Baala, Pierre Vabres, et al.
Communications Biology|May 11, 2021
ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathiesHyun-Sook Park, Eirini Papanastasi, Gabriela Blanchard, et al.
Communications Medicine|May 18, 2026
Trametinib for multiple non-ossifying fibromas due to KRAS mosaic mutations: two case reportsMarie Vincent, Soizic Tiriau, Marine Fouillet-Desjonqueres, et al.
The Journal of Pediatrics|May 22, 2010
Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosisJuliette Mazereeuw-Hautier, Peter H Hoeger, Sarah Benlahrech, et al.
Biochemical and Biophysical Research Communications|July 5, 2020
Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferationRomain Da Costa, Steven De Almeida, Martin Chevarin, et al.
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