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Article

Expanding the clinical and genetic spectrum of Heimler syndrome.

Orphanet journal of rare diseases - 12 Dec 2019

Gao Feng-Juan, Hu Fang-Yuan, Xu Ping, Qi Yu-He, Li Jian-Kang, Zhang Yong-Jin, Chen Fang, Chang Qing, Song Fang, Shen Si-Mai, Xu Ge-Zhi, Wu Ji-Hong

Abstract excerpt

BACKGROUND: Heimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlapping with Usher syndrome. So far, our knowledge of HS is very limited, many cases are misdiagnosed or may not even be diagnosed at all. This study aimed to analyze the clinical and genetic characteristics of HS, and to evaluate potential phenotype-genotype correlations. RESULTS: Two HS cases caused by PEX1...

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Identifiers

PMID: 31831025
DOI: 10.1186/s13023-019-1243-x
PMCID: PMC6909578

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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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