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Article

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.

Journal of human genetics - 1 May 2022

Hiraide Takuya, Masunaga Yohei, Honda Akira, Kato Fumiko, Fukuda Tokiko, Fukami Maki, Nakashima Mitsuko, Saitsu Hirotomo, Ogata Tsutomu

Abstract excerpt

X-linked dominant chondrodysplasia punctata (CDPX2) is a rare congenital disorder caused by pathogenic variants in EBP on Xp11.23. We encountered a girl and her mother with CDPX2-compatible phenotypes including punctiform calcification in the neonatal period of the girl, and asymmetric limb shortening and ichthyosis following the Blaschko lines in both subjects. Although Sanger direct sequencing failed to reveal...

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Identifiers

PMID: 34999728
DOI: 10.1038/s10038-021-01000-1

Genes

EBP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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