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In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.

This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.

This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.