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Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal recessive disorder
L X Rodríguez-Rojas1, D García-Cruz, R Mendoza-Topete
1División de Genética, Centro de Investigación Biomédica de Occidente, Guadalajara, Jalisco, Mexico.
Abstract:
Three sibs with congenital glaucoma, skeletal anomalies, and peculiar facial appearance were studied. At birth, enlarged eyes and corneae were present in the proposita and her two brothers due to congenital glaucoma secondary to iridogoniodysgenesis (IGD). The purpose of this article is to describe the second familial case with IGD and skeletal anomalies as the family previously described by García-Cruz et al. in 1990, corroborating this new distinct dysmorphic syndrome with probable autosomal recessive inheritance.
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