Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency
Children, 2023 Ectodermal dysplasias (EDs) represent a heterogeneous group of genetic disorders characterized by the abnormal development of ectodermal-derived tissues. They include the involvement of the hair, nails, skin, sweat glands, and teeth.
Victoria-Eugenia García-Martínez +6 more
doaj +1 more source
Familial aggregation of maxillary lateral incisor agenesis [PDF]
, 2010 In spite of recent developments, data regarding the genes responsible for the less severe forms of hypodontia are still scarce and controversial. This study addressed the hypothesis that agenesis of maxillary lateral incisors (MLIA) is a distinct type of
A. Sousa +10 more
core +1 more source
Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants
American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev +14 more
wiley +1 more source
Pigmentary Mosaicism: An Overview
JEADV Clinical Practice, Volume 4, Issue 3, Page 681-689, August 2025.Pigmentary mosaicism is reflected by a patterned hypo‐, hyperpigmentation, or both combined in cutis tricolour. Pigmentary mosaicism can be associated with extracutaneous features (mainly neurological, musculoskeletal or ophthalmological). Three main mechanisms are involved in the development of pigmentary mosaicism: mosaicism for a chromosomal ...
C. Colmant +3 more
wiley +1 more source
Early treatment of nonsyndromic oligodontia: a clinical case report
Bioscience Journal, 2017 This report aims to describe the clinical case of a 10-year-old male patient (R.C.B.C.), presenting nonsyndromic oligodontia with maternal family trait and absence of 22 permanent teeth.
Carolina Ribeiro Starling +3 more
doaj +3 more sources
Foghiányokat kísérő egyszerű nukleotid polimorfizmusok hypodontiában = Single nucleotide polymorphisms in hypodontia [PDF]
, 2013 Komplex megközelítéssel tanulmányoztuk a fogcsírahiányban feltehetőleg résztvevő több egyszerű nukleotid polimorfizmust (SNP) a magyar populációban.
Bánóczy, Jolán +10 more
core
Hypoplastic amelogenesis imperfecta with multiple impacted teeth: report of two cases [PDF]
, 2010 Amelogenesis Imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner.
Aarthi Nisha, Aarthi +2 more
core +1 more source
Embryonic cranial cartilage defects in the Fgfr3Y367C/+ mouse model of achondroplasia
The Anatomical Record, Volume 308, Issue 7, Page 1893-1911, July 2025.Abstract Achondroplasia, the most common chondrodysplasia in humans, is caused by one of two gain of function mutations localized in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) leading to constitutive activation of FGFR3 and subsequent growth plate cartilage and bone defects.
Susan M. Motch Perrine +9 more
wiley +1 more source
Hypohidrotic Ectodermal Dysplasia with total anodontia: a case report [PDF]
, 2011 Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack ...
Sathyajith Naik, N. +3 more
core +1 more source
Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia [PDF]
, 2021 Junya Adachi +11 more
openalex +1 more source