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Article

Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up.

BMC pediatrics - 2 Oct 2025

Zhang Jinghui, Qiao Nana, Li Xiaochun

Abstract excerpt

Goltz syndrome, also known as focal dermal hypoplasia, is an X-linked dominant genetic disorder caused by mutations in the PORCN gene, mainly characterized by developmental impairments affecting the skin, hair, bones, teeth, and eyes. This study reports a case with extensive skin dysplasia, limb malformations, and short stature. The genomic DNA whole exome sequencing of the child at 1 month of age revealed a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41039413
DOI: 10.1186/s12887-025-06129-y
PMCID: PMC12492901

Genes

PORCN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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