Article
Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism.
The Journal of clinical endocrinology and metabolism - 1 Mar 2020
Tahoun Mona, Chandler Jennifer C, Ashton Emma, Haston Scott, Hannan Athia, Kim Ji Soo, D'Arco Felipe, Bockenhauer D, Anderson G, Lin Meei-Hua, Marzouk Salah, Saied Marwa H, Miner Jeffrey H, Dattani Mehul T, Waters Aoife M
Abstract excerpt
CONTEXT: Mutations in LAMB2, encoding the basement membrane protein, laminin β2, are associated with an autosomal recessive disorder characterized by congenital nephrotic syndrome, ocular abnormalities, and neurodevelopmental delay (Pierson syndrome). CASE DESCRIPTION: This report describes a 12-year-old boy with short stature, visual impairment, and developmental delay who presented with macroscopic hematuria...
Topics
- Albuminuria
- Child
- Humans
- Hypopituitarism
- Laminin
- Male
- Mutation
- Optic Nerve Hypoplasia
- Phenotype