Expanding the phenotypic spectrum of RPL13 ‐related skeletal dysplasia

Volume: 185, Issue: 9, Pages: 2776 - 2781
Published: Nov 27, 2020
Abstract
RPL13-related disorder is a newly described skeletal dysplasia characterized as a form of spondyloepimetaphyseal dysplasia with normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. We present a 9-year-old male with a history of lower leg pain and concern for an unspecified form of multiple epiphyseal dysplasia (MED). Exome sequencing revealed a de novo heterozygous RPL13 c.477+1G>A (IVS4+1G>A) pathogenic...
Paper Details
Title
Expanding the phenotypic spectrum of RPL13 ‐related skeletal dysplasia
Published Date
Nov 27, 2020
Volume
185
Issue
9
Pages
2776 - 2781
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