Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene

Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene

Abstract Background Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients. Results We report for the first time thyroid function impairment in...

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Bibliographic Details
Main Authors: Nacim Louhichi, Emna Bahloul, Slaheddine Marrakchi, Houda Ben Othman, Chahnez Triki, Kawthar Aloulou, Lobna Trabelsi, Nadia Mahfouth, Zeineb Ayadi-Mnif, Leila Keskes, Faiza Fakhfakh, Hamida Turki
Format: Article
Language:English
Published: BMC 2019-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hypothyroidism
CDS
C.773(− 1)G > A mutation
ABHD5 gene
Splice site
Online Access:http://link.springer.com/article/10.1186/s13023-019-1095-4

Internet

http://link.springer.com/article/10.1186/s13023-019-1095-4

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