Understanding Lethal congenital contracture syndrome 1

By Dr. Rebecca Barnes, MD · 2022-02-06 · Pediatrics

Patients often ask us about lethal congenital contracture syndrome 1. Here is what our Pediatrics clinicians want you to know.

About this topic

Topic: lethal congenital contracture syndrome 1. A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34.

Mentioned in this article

• newborn heart rate measurement
• shoulder radiograph procedure

Related care

• substrate reduction therapy
• aerobic exercise therapy
• biopsy of cerebellum

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