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Article

Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia.

American journal of medical genetics. Part A - 1 Sept 2021

Reinsch Breann, Grand Katheryn, Lachman Ralph S, Kim Harry K W, Sanchez-Lara Pedro A

Abstract excerpt

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...

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PMID: 33247527
DOI: 10.1002/ajmg.a.61965

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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