D Catrinoiu C M Mihai L Tuta R Stoicescu A Simpetru
J Med Life
2009 Jan-Mar;2(1):98-103.
CC BY
https://pubmed.ncbi.nlm.nih.gov/20108498/
Alstrom Syndrome / genetics Bardet-Biedl Syndrome / genetics Empty Sella Syndrome / genetics
Alstrom Syndrome / genetics Bardet-Biedl Syndrome / genetics Empty Sella Syndrome / genetics Case Reports Blindness / genetics Cardiomyopathy, Dilated / genetics Cilia / physiology Diabetes Mellitus, Type 2 / genetics Hearing Loss, Sensorineural / genetics Human Growth Hormone / deficiency Humans Hypertension / genetics Male Obesity / genetics Pedigree Phenotype Young Adult Human Growth Hormone
PMC5051489
20108498
Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype
2009