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Case Report: A novel PTHLH nonsense variant in a mother-son pair with brachydactyly type E and short stature, with a genotype-stature review.

Frontiers in endocrinology - 1 Jan 2026

Huang Hui, Zhu Binyang, Wang Zaisheng, Wu Zhuqiang, Rao Jinqiu, Yang Yu, Xiong Xiangyu

Abstract excerpt

Background: Brachydactyly type E is a rare skeletal disorder characterized by variable shortening of the metacarpals and/or metatarsals. Heterozygous pathogenic variants in PTHLH, which encodes parathyroid hormone-related protein, are an established cause of autosomal dominant brachydactyly type E and are variably associated with short stature. Case presentation: We report a mother-son pair with brachydactyly...

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Identifiers

PMID: 42539507
DOI: 10.3389/fendo.2026.1875896
PMCID: PMC13423629

Genes

PTHLH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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