Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.

doi:10.1016/j.ajhg.2013.10.025

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Article

Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.

American journal of human genetics - 5 Dec 2013

Shalata Adel, Ramirez Maria C, Desnick Robert J, Priedigkeit Nolan, Buettner Christoph, Lindtner Claudia, Mahroum Mohammed, Abdul-Ghani Muhammad, Dong Feng, Arar Nazik, Camacho-Vanegas Olga, Zhang Rui, Camacho Sandra C, Chen Ying, Ibdah Mwafaq, DeFronzo Ralph, Gillespie Virginia, Kelley Kevin, Dynlacht Brian D, Kim Sehyun, Glucksman Marc J, Borochowitz Zvi U, Martignetti John A

Abstract excerpt

Obesity is a major public health concern, and complementary research strategies have been directed toward the identification of the underlying causative gene mutations that affect the normal pathways and networks that regulate energy balance. Here, we describe an autosomal-recessive morbid-obesity syndrome and identify the disease-causing gene defect. The average body mass index of affected family members was...

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Identifiers

PMID: 24268657
DOI: 10.1016/j.ajhg.2013.10.025
PMCID: PMC3852924

Genes

CEP19

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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