Wiley Open Access, Clinical Case Reports, 12(10), 2022
DOI: 10.1002/ccr3.6720
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AbstractA 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.