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Related Experiment Video

Updated: Jul 2, 2026

A Novel Method: Super-selective Adrenal Venous Sampling

A Novel Method: Super-selective Adrenal Venous Sampling

Published on: September 15, 2017

Peters plus syndrome.

Seema Kapoor¹, Sharmila Banerjee Mukherjee, Ritu Arora

¹Division of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College, Bahadur Shah Zafar Marg, New Delhi, India. seemam@vsnl.com

Indian Journal of Pediatrics

|September 2, 2008

Summary

This summary is machine-generated.

Peters

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Area of Science:

Genetics and Developmental Biology
Ophthalmology
Clinical Medicine

Background:

Peters' plus syndrome is a rare genetic disorder.
It is characterized by ocular anomalies, intellectual disability, and distinctive facial features.

Observation:

A 10-year-old boy presented with visual impairment, short stature, and mental retardation.
Clinical examination revealed Peters' anomaly, disproportionate short stature, skeletal abnormalities, and specific facial features.

Findings:

Genetic analysis identified a homozygous deletion in the beta1,3-galactosyltransferase-like gene (B3GALTL).
This gene is recently identified and implicated in Peters' plus syndrome.

Implications:

This finding expands the understanding of the genetic basis of Peters' plus syndrome.
It highlights the role of B3GALTL in human development and disease.
Further research into B3GALTL function may lead to novel therapeutic strategies.