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Article

Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.

Human genetics - 1 Feb 2005

Kim Jung-Wook, Hu Jan C-C, Lee Jae-Il, Moon Sung-Kwon, Kim Young-Jae, Jang Ki-Taeg, Lee Sang-Hoon, Kim Chong-Chul, Hahn Se-Hyun, Simmer James P

Abstract excerpt

The current system for the classification of hereditary defects of tooth dentin is based upon clinical and radiographic findings and consists of two types of dentin dysplasia (DD) and three types of dentinogenesis imperfecta (DGI). However, whether DGI type III should be considered a distinct phenotype or a variation of DGI type II is debatable. In the 30 years since the classification system was first proposed,...

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Identifiers

PMID: 15592686
DOI: 10.1007/s00439-004-1223-6

Genes

DSPP

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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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Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.PMID 15592686Read ↗

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A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II.Semantic proximity Read ↗

Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation.Semantic proximity Read ↗

A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.Semantic proximity Read ↗

A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.Semantic proximity Read ↗

Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia.Semantic proximity Read ↗

Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II.Semantic proximity Read ↗

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Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.Semantic proximity Read ↗

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