Results 41 to 50 of about 19,066 (210)
Contemporary Clinical Dentistry, 2012 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature.
P K Shivaprakash +3 more
doaj +1 more source
Removable Partial Dentures vs Overdentures in Children with Ectodermal Dysplasia: Two Case Reports [PDF]
, 2016 Ectodermal dysplasia (ED) represents a disorder group characterised by abnormal development of the ectodermal derivatives. Removable partial dentures (RPD), complete dentures (CD) or overdentures (OD) are most often the treatment of choice for young ...
Angelopoulou, Matina V. +3 more
core +1 more source
A review of implant provision for hypodontia patients within a Scottish referral centre [PDF]
, 2017 Background: Implant treatment to replace congenitally missing teeth often involves multidisciplinary input in a secondary care environment. High quality patient care requires an in-depth knowledge of treatment requirements.
A Dasmah +21 more
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
Molecular Genetics and Metabolism Reports, 2021 Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.).
Baiba Alksere +14 more
doaj +1 more source
A novel homozygous mutation of the AIRE gene in an APECED patient from Pakistan: case report and review of the literature [PDF]
, 2018 Autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene.
Bellacchio, Emanuele +5 more
core +2 more sources
The Roles of EDA2R in Ageing and Disease
Aging Cell, EarlyView.Elevated expression of the ectodysplasin A2 receptor (EDA2R) has been linked to ageing and disease. We appraise the roles of EDA2R in these processes, exploring mechanisms of action, biomarker potential and therapeutic relevance of EDA2R in multiple contexts. ABSTRACT Ageing is a complex biological process driven, in part, by inflammaging.
Gemma Farrington +9 more
wiley +1 more source
Brain Pathology, EarlyView.Mesenchymal stromal cell‐and fibroblast‐expressing Linx paralogue (Meflin) is expressed in embryonic meninges and contributes to meningeal homeostasis. In meningiomas, elevated Meflin correlates with higher grade and recurrence. Single‐cell RNA sequencing revealed a Meflin‐high tumor cell subset marked by reduced proliferation, WNT6 expression, and ...
Yukihiro Shiraki +13 more
wiley +1 more source
Mapping Dental Care for Children and Adolescents With Rare Diseases: A Brazilian Multicentre Study
Community Dentistry and Oral Epidemiology, EarlyView.ABSTRACT Objectives To describe the landscape of dental care provided by specialised centres for children and adolescents with rare diseases (RDs) in the state of Minas Gerais, southeastern Brazil. Methods A retrospective cross‐sectional study was conducted involving individuals aged 0–18 years with a confirmed diagnosis of a RD who received care at ...
Heloisa Vieira Prado +21 more
wiley +1 more source
Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2014 Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in
Reema Sharma Dhar, Amitava Bora
doaj +1 more source