ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0016.14-17 | (1) | ESPEYB16

14.17. Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia

S Bhattacharya , J Li , A Sockell , MJ Kan , FA Bava , SC Chen , MC Avila-Arcos , X Ji , E Smith , NB Asadi , RS Lachman , HYK Lam , CD Bustamante , AJ Butte , GP Nolan

To read the full abstract: Genome Res 2018;28:423–431The discovery of a mummified humanoid female skeleton on a shelf in a building in La Noria, Chile in 2003 created enormous scientific and popular interest. Its highly unusual appearance included a length of only 6 inches despite a bone age of 6–7 years old, marked turricephaly (a cone-shaped top of the skull), and reduced number...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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