The WES of a tooth agenesis family with BMPR2 variant

NIAID Data Ecosystem2026-03-14 收录

牙本质发育不全

BMPR2基因突变

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https://www.ncbi.nlm.nih.gov/bioproject/PRJNA900358 数据链接链接失效反馈

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We displayed whole-exome sequencing (WES) data of members in a four-generation family who was identified as a BMPR2 variant.

创建时间：

2022-11-10

James P. Simmer. Proteomics and Genetics of Enamel and Dentin

牙本质发育不全

牙科遗传学

Inherited enamel malformations are caused by defects in genes essential for dental enamel formation and are grouped together under the collective designation of Amelogenesis Imperfecta, or AI. AI is a

DataCite Commons2020-07-08 更新90

A novel hypothesis based on clinical, radiological, and histological data to explain the dentinogenesis imperfecta type II phenotype

牙本质发育不全

牙科病理学

Purpose/Aim : The aim of this study was to explore whether dentinogenesis imperfecta (DGI)-related aberrations are detectable in odontogenic tissues. Materials and Methods : Morphological

DataCite Commons2021-12-31 更新60

Additional file 2 of FGFR1 variants contributed to families with tooth agenesis

牙本质发育不全

FGFR1基因表型关联

Additional file 2. Table S2. The phenotypes with FGFR1 related disorders.

Figshare2023-10-13 更新40

A potential functional association between mutant BMPR2 and primary ovarian insufficiency

原发性卵巢功能不全

BMPR2基因突变

Primary ovarian insufficiency (POI) affects ~1% of women in the general population. Despite numerous attempts at identifying POI genetic aetiology, coding mutations in only a few genes have been funct

DataCite Commons2020-09-02 更新60

Amelogenesis Imperfecta in Two Families with Defined AMELX Deletions in ARHGAP6

牙本质发育不全

X连锁基因

Amelogenesis imperfecta (AI) is a group of inherited conditions featuring isolated enamel malformations. About 5% of AI cases show an X-linked pattern of inheritance, which are caused by mutations in

NIAID Data Ecosystem40

The WES of a tooth agenesis family with BMPR2 variant

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