1.
Clin Case Rep
; 10(12): e6720, 2022 Dec.
Article
in English
| MEDLINE
| ID: mdl-36514460
ABSTRACT
A 32-year-old male case with short stature presented to us with audio-visual impairment, obesity, impaired glucose tolerance, dyslipidemia, and hypogonadism. The single-gene genetic analysis revealed an ALMS1 gene mutation. A diagnosis of ALMS was reached for meeting one major and four minor criteria.