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Toni Mochty: Bardet Biedl syndrome “avant la lettre”
Author(s) -
Herder Wouter
Publication year - 2020
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13647
Subject(s) - brachydactyly , polydactyly , syndactyly , aplasia , pediatrics , medicine , bardet–biedl syndrome , ciliopathy , agenesis of the corpus callosum , retinitis pigmentosa , genu valgum , hypogonadotropic hypogonadism , short stature , anatomy , surgery , ophthalmology , genetics , biology , gene , phenotype , retinal , corpus callosum , hormone
Long before Georges Louis Bardet and Artur Biedl described their syndrome, "the fattest boy in the world", "a wonder of nature" with at least 4 symptoms and signs of the Bardet-Biedl syndrome was exhibited in different places all over Europe, before his manager got disabled. This article is protected by copyright. All rights reserved.