WebMay 11, 2024 · Hallmarks were amelogenesis imperfecta (absence of the enamel cap) associated with short trunk and brachyolmia-like anomalies (platyspondyly with short … WebAmelogenesis imperfecta (AI) is a group of rare heterogeneous inherited disorders characterized by defective or missing tooth enamel, affecting all or nearly all the teeth. In particular, the enamel appears hypoplastic and/or hypomineralized and the affected teeth, which are discolored and sensitive, often tend to disintegration.
ZFIN Gene: ltbp3 - Zebrafish Information Network
WebSep 15, 2024 · Brachyolmia-amelogenesis imperfecta syndrome Synonyms: Verloes Bourguignon syndrome; Skeletal dysplasia with amelogenesis imperfecta and platyspondyly; Platyspondyly with amelogenesis imperfecta; See all synonyms [MedGen] Identifiers: MONDO: MONDO:0011018; MedGen: C1832594; Orphanet: 2899; OMIM: … WebOct 19, 2024 · NM_001130144.3(LTBP3):c.1077C>T (p.Cys359=) AND Brachyolmia-amelogenesis imperfecta syndrome Clinical significance:Benign (Last evaluated: Dec 7, 2024) Review status:1 star out of maximum of 4 stars criteria provided, single submitter Help Based on: 1 submission [Details] Record status: current Accession: RCV000864885.5 hd mountains
LTBP3 Vertebrate HGNC
WebSep 12, 2024 · In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel … WebSpecialists who have done research into Brachyolmia-amelogenesis imperfecta syndrome. These specialists have recieved grants, written articles, run clinical trials, or taken part in organizations relating to Brachyolmia-amelogenesis imperfecta syndrome, and are considered knowledgeable about the disease as a result. WebSep 12, 2024 · In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoliosis, broad ilia, elongated femoral necks with coxa valga) and severe enamel and dental … hdmona restaurant köln