Ataxia in children: early recognition and clinical evaluation [PDF]
, 2017 Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele +6 more
core +1 more source
Evaluation of Canine Transpositions and Related Dental Anomalies in a Turkish Pediatric Population
Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2022 Objective: To investigate the prevalence and characteristics of canine transpositions and to evaluate associated dental anomalies in a pediatric population.
Esra Oz, Zuhal Kırzıoglu
doaj
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil +8 more
wiley +1 more source
Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää +14 more
wiley +1 more source
PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E [PDF]
, 2017 OBJECTIVE: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain‐of‐function mutation associated with peripheral neuropathy in a family with ...
Bai, Yunhong +8 more
core +2 more sources
A Narrative Review of the Association between Dental Abnormalities and Chemotherapy
Journal of Clinical MedicineDental abnormalities are often detected in childhood and are reported to occur with high prevalence in patients who have undergone cancer treatment or chemotherapy.
Tatsuya Akitomo +3 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source
Influence of Environmental Factors on the Presence and Severity of Molar Incisor Hypomineralization
Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2021 Objective: To assess the association between environmental factors during pregnancy and early childhood with the presence and severity of Molar Incisor Hipomineralization (MIH).
Fernanda Mafei Felix da Silva +5 more
doaj
Radiographic study of patients with ectodermal dysplasia and partial
Indian Journal of Dental Research, 2012 Aim: To investigate the association between gender and type of cleft with hypodontia and to verify if the presence of the cleft interferes with hypodontia of one or more type of teeth in patients with ectodermal dysplasia attending the Hospital for ...
Rafaela Rangel Rosa +5 more
doaj +1 more source
Tooth Marker of Ecological Abnormality: the Interpretation of Stress in Extinct Mega Herbivores (Proboscideans) of the Siwaliks of Pakistan [PDF]
, 2021 Muhammad Ameen +4 more
openalex +1 more source