Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puber...
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty
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Author / Creator
Duckett, Katie , Williamson, Alice , Kincaid, John W R , Rainbow, Kara , Corbin, Laura J , Martin, Hilary C , Eberhardt, Ruth Y , Huang, Qin Qin , Hurles, Matthew E , He, Wen , Brauner, Raja , Delaney, Angela , Dunkel, Leo , Grinspon, Romina P , Hall, Janet E , Hirschhorn, Joel N , Howard, Sasha R , Latronico, Ana C , Jorge, Alexander A L , McElreavey, Ken , Mericq, Verónica , Merino, Paulina M , Palmert, Mark R , Plummer, Lacey , Rey, Rodolfo A , Rezende, Raíssa C , Seminara, Stephanie B , Salnikov, Kathryn , Banerjee, Indraneel , Lam, Brian Y H , Perry, John R B , Timpson, Nicholas J , Clayton, Peter , Chan, Yee-Ming , Ong, Ken K and O’Rahilly, Stephen
Publisher
US: Oxford University Press
Journal title
Language
English
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Publication information
Publisher
US: Oxford University Press
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More information
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Contents
Abstract
Context
The melanocortin 3 receptor (MC3R) has recently emerged as a critical regulator of pubertal timing, linear growth, and the acquisition of lean mass in humans and mice. In population-based studies, heterozygous carriers of deleterious variants in MC3R report a later onset of puberty than noncarriers. However, the frequency of...
Alternative Titles
Full title
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty
Authors, Artists and Contributors
Author / Creator
Williamson, Alice
Kincaid, John W R
Rainbow, Kara
Corbin, Laura J
Martin, Hilary C
Eberhardt, Ruth Y
Huang, Qin Qin
Hurles, Matthew E
He, Wen
Brauner, Raja
Delaney, Angela
Dunkel, Leo
Grinspon, Romina P
Hall, Janet E
Hirschhorn, Joel N
Howard, Sasha R
Latronico, Ana C
Jorge, Alexander A L
McElreavey, Ken
Mericq, Verónica
Merino, Paulina M
Palmert, Mark R
Plummer, Lacey
Rey, Rodolfo A
Rezende, Raíssa C
Seminara, Stephanie B
Salnikov, Kathryn
Banerjee, Indraneel
Lam, Brian Y H
Perry, John R B
Timpson, Nicholas J
Clayton, Peter
Chan, Yee-Ming
Ong, Ken K
O’Rahilly, Stephen
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Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_04948065v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04948065v1
Other Identifiers
ISSN
0021-972X,1945-7197
E-ISSN
1945-7197
DOI
10.1210/clinem/dgad373
