Diagnosing Alström syndrome in a patient followed up with syndromic obesity for years.
ALMS1 gene
biallelic mutations
obesity
rare diseases
Journal
Intractable & rare diseases research
ISSN: 2186-3644
Titre abrégé: Intractable Rare Dis Res
Pays: Japan
ID NLM: 101586847
Informations de publication
Date de publication:
May 2022
May 2022
Historique:
received:
10
02
2022
revised:
13
04
2022
accepted:
20
04
2022
entrez:
15
6
2022
pubmed:
16
6
2022
medline:
16
6
2022
Statut:
ppublish
Résumé
Alström syndrome (AS) is a rare autosomal recessive monogenic disorder caused by mutations of the
Identifiants
pubmed: 35702577
doi: 10.5582/irdr.2022.01024
pmc: PMC9161128
doi:
Types de publication
Journal Article
Langues
eng
Pagination
84-86Informations de copyright
2022, International Research and Cooperation Association for Bio & Socio - Sciences Advancement.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to disclose.
Références
Nat Genet. 2002 May;31(1):74-8
pubmed: 11941369
Eur J Hum Genet. 2007 Dec;15(12):1193-202
pubmed: 17940554