Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.

American journal of human genetics - 1 Feb 2008

Kim Jung-Wook, Lee Sook-Kyung, Lee Zang Hee, Park Joo-Cheol, Lee Kyung-Eun, Lee Myoung-Hwa, Park Jong-Tae, Seo Byoung-Moo, Hu Jan C-C, Simmer James P

Abstract excerpt

Amelogenesis imperfecta (AI) is a collection of diverse inherited disorders featuring dental-enamel defects in the absence of significant nondental symptoms. AI phenotypes vary and are categorized as hypoplastic, hypocalcified, and hypomaturation types. Phenotypic specificity to enamel has focused research on genes encoding enamel-matrix proteins. We studied two families with autosomal-dominant hypocalcified AI...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amelogenesis Imperfecta
Share to Chromosomes, Human, Pair 8

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to DNA Primers

Share to In Situ Hybridization

Share to Lod Score

Share to Proteins

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 18252228
DOI: 10.1016/j.ajhg.2007.09.020
PMCID: PMC2427219

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.PMID 18252228Read ↗

A Novel FAM83H Truncation Mutation Disrupts Enamel Mineralization in Autosomal Dominant Hypocalcified Amelogenesis Imperfecta.Semantic proximity Read ↗

Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification.Semantic proximity Read ↗

Pre-eruptive Coronal Resorptions as a Clinical Feature of FAM83H-Related Amelogenesis Imperfecta: Insights from Two Brazilian Families.Semantic proximity Read ↗

Novel FAM83H mutations in patients with amelogenesis imperfecta.Semantic proximity Read ↗

Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel.Semantic proximity Read ↗

Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation.Semantic proximity Read ↗

Phenotypic Variation in <i>FAM83H-</i> associated Amelogenesis ImperfectaSemantic proximity Read ↗

A Recurrent FAM83H Mutation in an Extended Colombian Family and Variable Craniofacial PhenotypesSemantic proximity Read ↗

FAM83H and Autosomal Dominant Hypocalcified Amelogenesis ImperfectaSemantic proximity Read ↗

Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta.Semantic proximity Read ↗

The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a Chinese family.Semantic proximity Read ↗

FAM83H mutation analysis and its expression in rat tooth germs and human dental cellsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.