Journal Article10.1111/PDE.14309
Congenital enlargement of toes.
About: This article is published in Pediatric Dermatology. The article was published on 01 Sep 2020.
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References
PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation
Kim M. Keppler-Noreuil,Jonathan J. Rios,Victoria E. R. Parker,Robert K. Semple,Marjorie J. Lindhurst,Julie C. Sapp,Ahmad I. Alomari,Marybeth Ezaki,William B. Dobyns,Leslie G. Biesecker +9 more
TL;DR: The phenotypic spectrum associated with different genotypes and mutation burdens was characterized, including a better understanding of associated complications and natural history, and preliminary recommendations for a uniform approach to assessment of overgrowth and molecular diagnostic testing were determined.
494
Targeted therapy in patients with PIK3CA-related overgrowth syndrome
Quitterie Venot,Thomas Blanc,Thomas Blanc,Thomas Blanc,Smail Hadj Rabia,Smail Hadj Rabia,Laureline Berteloot,Sophia Ladraa,J P Duong,J P Duong,Estelle Blanc,Simon C. Johnson,Clément Hoguin,Olivia Boccara,Sabine Sarnacki,Sabine Sarnacki,Nathalie Boddaert,Nathalie Boddaert,Stéphanie Pannier,Stéphanie Pannier,Frank Martinez,Sato Magassa,Junna Yamaguchi,Bertrand Knebelmann,Bertrand Knebelmann,Bertrand Knebelmann,Pierre Merville,Nicolas Grenier,Dominique Joly,Dominique Joly,Dominique Joly,Valérie Cormier-Daire,Valérie Cormier-Daire,Caroline Michot,Caroline Michot,Christine Bole-Feysot,Arnaud Picard,Arnaud Picard,Véronique Soupre,Stanislas Lyonnet,Stanislas Lyonnet,Jérémy Sadoine,Lotfi Slimani,Catherine Chaussain,Cécile Laroche-Raynaud,Laurent Guibaud,Christine Broissand,Jeanne Amiel,Jeanne Amiel,Christophe Legendre,Christophe Legendre,Christophe Legendre,Fabiola Terzi,Fabiola Terzi,Guillaume Canaud,Guillaume Canaud,Guillaume Canaud +56 more
TL;DR: This study provides the first direct evidence supporting PIK3CA inhibition as a promising therapeutic strategy in patients with PROS, by reversing symptoms in a mouse model of PROS/CLOVES syndrome, which results from gain-of-function mutations in PI3KCA.
476
Makrodystrophia lipomatosa progressiva
TL;DR: Der Fettriesenwuchs, für den die Bezeichnung Macrodystrophia lipomatosa progressiva vorgeschlagen wird, ist keine Form oder Unterabteilung des sog.
71
An investigation of PIK3CA mutations in isolated macrodactyly
TL;DR: The results indicate that a high proportion of isolated macrodactyly patients carry a pathogenic PIK3CA mutation, and adipose had the highest mutation detection rate, followed by nerve and skin.
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