Results 131 to 140 of about 867,107 (207)

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, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

Treating congenitally missing teeth with an interdisciplinary approach. [PDF]

J Indian Soc Periodontol, 2013
Nirola A, Bhardwaj SJ, Wangoo A, Chugh AS.   +3 more
europepmc   +1 more source

Association Between Hypomineralisation of Second Primary Molars and Tooth Agenesis

International Journal of Paediatric Dentistry, Volume 36, Issue 6, Page 883-889, November 2026.
ABSTRACT Background Hypomineralisation of second primary molars (HSPM) is an enamel defect with a multifactorial and potentially genetic aetiology. While the association between enamel defects and dental anomalies is a relatively recent area of investigation, it has not yet been explored specifically in cases of HSPM.
Débora Juliana de Araújo Lopes, Eloisa Cesario Fernandes, Jaderson Felipe Santos Dantas, Patrícia Bittencourt Santos   +3 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Diagnostic accuracy of an artificial intelligence-based software in detecting supernumerary and congenitally missing teeth in panoramic radiographs. [PDF]

Eur J Orthod
Makrygiannakis MA, Giannakopoulos K, Kavadella A, Paraskevis D, Kaklamanos EG.   +4 more
europepmc   +1 more source

Serum Vitamin D Levels at Birth Are Not Associated With the Formation of Interglobular Dentin in Deciduous Teeth of Modern New Zealand Children

American Journal of Biological Anthropology, Volume 191, Issue 2, October 2026.
ABSTRACT Interglobular dentin (IGD) has been used as a biomarker for vitamin D deficiency (VDD) in past populations. However, an evidence‐based threshold for the levels of serum vitamin D associated with IGD occurrence has not been established. Here, we explore the association between perinatal serum vitamin D levels, presence of IGD, and biological ...
Anne Marie Sohler‐Snoddy, Stephanie Chan, Rebecca Weastell, Victoria Chen, Benjamin J. Wheeler, Deanna Beckett, Carolina Loch   +6 more
wiley   +1 more source

An Interdisciplinary Treatment Approach for Congenitally Missing Teeth: A Case Report. [PDF]

Cureus
Ravi R, Taori KP, Jadhav VV, Azmi MS.
europepmc   +1 more source

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, Volume 309, Issue 10, Page 2698-2724, October 2026.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source

Craniofacial Characteristics and Orthodontic Management in a Patient With Moebius Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Nonextraction orthodontic treatment using multibracket appliances and transverse expansion improved maxillary protrusion, severe crowding, and anterior open bite in a 14‐year‐old patient with Moebius syndrome. Stable Class I occlusion and functional improvement were achieved, but long‐term follow‐up remains essential to monitor stability and ...
Naoto Hirose, Makoto Yanoshita, Azusa Onishi, Naoki Kubo, Daiki Kita, Marino Yoshida, Kotaro Tanimoto   +6 more
wiley   +1 more source

Evaluation of tooth size in patients with congenitally-missing teeth. [PDF]

J Dent Res Dent Clin Dent Prospects, 2013
Ramazanzadeh BA, Ahrari F, Hajian S.
europepmc   +1 more source