Results 51 to 60 of about 1,226,922 (193)
Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum
Clinical Genetics, Volume 110, Issue 5, Page 605-615, November 2026.Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz +23 more
wiley +1 more source
Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization
The FASEB Journal, Volume 40, Issue 17, 15 September 2026.Calcium phosphate biomineralization has traditionally been considered a protein‐regulated process. This review highlights the emerging role of nucleic acids, which interact with mineral phases through adsorption, coprecipitation, and templating, thereby influencing crystal nucleation and growth.
Fanny Duhalde +2 more
wiley +1 more source
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
, 2011 Goltz syndrome is a rare congenital disorder characterized by ectodermal and mesodermal dysplasia with multisystem defects. It was first reported in 1962 by Goltz as a focal dermal hypoplasia.
이, 호원, 변, 철수, 홍, 정
core +1 more source
Gorlin syndrome - an incidental radiographic detection
South African Journal of Radiology, 2011 Gorlin-Goltz syndrome (also known as nevoid basal cell carcinoma syndrome) was first reported in 1894, but described by Gorlin and Goltz in 1960 as a distinct entity consisting of ectodermal and mesodermal abnormalities.
Shishir Ram Shetty +5 more
doaj +1 more source
European Journal of Dental Education, Volume 30, Issue 3, Page 881-895, August 2026.ABSTRACT Aim To compare the item difficulty and discriminative index of multiple‐choice questions (MCQs) generated by ChatGPT with those created by dental educators, based on the performance of dental students in a real exam setting. Materials and Methods A total of 40 MCQs—20 generated by ChatGPT 4.0 and 20 by dental educators—were developed based on ...
Nezaket Ezgi Özer +4 more
wiley +1 more source
, 2021 La hipoplasia dérmica focal, también conocida como síndrome de Goltz, es una rara genodermatosis dominante ligada al cromosoma X, que afecta al tejido ectodérmico y mesodérmico.
Alba, Catherine +3 more
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Autism Research, Volume 19, Issue 7, July 2026.ABSTRACT Irritability is a prevalent and impairing feature associated with autism, yet remains poorly understood, particularly in adults. Drawing heavily on insights translated from pediatric and transdiagnostic literatures, we propose that irritability in autistic individuals often reflects a psychophysiological stress or threat response, rooted in a ...
Hsiang‐Yuan Lin +3 more
wiley +1 more source
Gorlin-Goltz Syndrome: case report and review of literature [PDF]
, 2014 Description of a case report of Gorlin-Goltz Syndrome diagnosed in a male newborn who presented increased head circumference and bifid ribs. Mother and grandmother presented typical physical findings of the syndrome, including palmar pits, odontogenic ...
Bischoff, Adrianne Rahde +20 more
core +5 more sources
Head and Neck Clinical Signs Associated With Diseases: A Scoping Review
Special Care in Dentistry, Volume 46, Issue 3, May/June 2026.ABSTRACT Objective Clinical signs observed during head and neck examination offer important diagnostic clues. This scoping review aimed to identify key clinical signs in this region associated with diseases and syndromes and to map them according to their location. Methods An electronic literature search was performed in five databases (Embase, LILACS,
Helena Miguel Cotter +8 more
wiley +1 more source