Σφακιανάκης Αλέξανδρος
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5 Άγιος Νικόλαος
Κρήτη 72100
00302841026182
00306932607174
alsfakia@gmail.com

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! # Ola via Alexandros G.Sfakianakis on Inoreader

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Δευτέρα 18 Φεβρουαρίου 2019

A case of childhood‐onset cutaneous mastocytosis with loss of wild‐type KIT allele

Abstract

Childhood‐onset cutaneous mastocytosis (CM) have been regarded as a clonal disease similar to adult‐onset systemic mastocytosis since the discovery of somatic KIT mutations in pediatric patients. To our knowledge, all mutations previously detected in CM have been heterozygous. Here we report a case of pediatric CM in which only a KIT 502_503dupAY mutation, but not the wild‐type allele, was detected.

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