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Article

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.

American journal of medical genetics. Part A - 1 Jan 2018

Wenger Tara, Li Dong, Harr Margaret H, Tan Wen-Hann, Pellegrino Renata, Stark Zornitza, Hakonarson Hakon, Bhoj Elizabeth J

Abstract excerpt

Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes. We present six individuals from three families, including a set of monozygotic twins, with pathogenic TP63 variants who had novel clinical findings. The twins were discordant for...

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PMID: 29130604
DOI: 10.1002/ajmg.a.38516

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