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Article

First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.

Annals of clinical and laboratory science - 1 Jul 2018

Jeong Hye-In, Yang Aram, Kim Jinsup, Jang Ja-Hyun, Cho Sung Yoon, Jin Dong-Kyu

Abstract excerpt

Renpenning syndrome is a rare X-linked disorder characterized by mental retardation, leanness, microcephaly, facial dysmorphism, short stature, and small testes. This disease is caused by PQBP1 mutations. Herein, we present a literature review and describe the clinical and molecular findings in a Korean boy with Renpenning syndrome. A 23-month-old boy presented with mental retardation, narrow face, bulbous nose,...

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Source

Identifiers

PMID: 30143497

Genes

PQBP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.PMID 30143497Read ↗

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