Results 291 to 300 of about 1,253,731 (353)

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis. [PDF]

Pathol Oncol Res
Antal G, Zsigmond A, Till Á, Orsi E, Szanto I, Büki G, Kereskai L, Herbert Z, Hadzsiev K, Bene J.   +9 more
europepmc   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.
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, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon, Francesca Caroppo, Lisa Passaglia, Francesca Boaretto, Leonardo Salviati, Anna Belloni Fortina   +5 more
wiley   +1 more source

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients. [PDF]

Heliyon
Nawaz H, Parveen A, Khan SA, Zalan AK, Khan MA, Muhammad N, Hassib NF, Mostafa MI, Elhossini RM, Roshdy NN, Ullah A, Arif A, Khan S, Ammerpohl O, Wasif N.   +14 more
europepmc   +1 more source

STAT3‐Mutated Hyper‐IgE Syndrome With Retroperitoneal Abscess in Adolescence

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Hyperimmunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disorder characterized by eczema, recurrent staphylococcal infections, and significantly elevated serum IgE levels. An 18‐year‐old female presented with acute abdominal pain and was diagnosed with a retroperitoneal abscess.
Hiroaki Sugiyama, Yousuke Higuchi, Shintaro Fujiwara, Koki Aya, Wataru Mukai, Takafumi Goto   +5 more
wiley   +1 more source

A Rare Case Report of Four Bilateral Maxillary Lateral Incisors in a Non‐Syndromic Patient

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Bilateral supernumerary maxillary lateral incisors in non‐syndromic adults are extremely rare and pose diagnostic and treatment challenges. This case report describes a 34‐year‐old male with esthetic concerns and malocclusion, successfully managed through strategic extraction, transverse expansion, and fixed orthodontic therapy, achieving ...
Seyed‐Mohsen Hosseini‐Adib, Mona Kazemi   +1 more
wiley   +1 more source

CACNA1S mutation-associated dental anomalies: A calcium channelopathy. [PDF]

Oral Dis
Kantaputra P, Butali A, Eliason S, Chalkley C, Nakornchai S, Bongkochwilawan C, Kawasaki K, Kumchiang A, Ngamphiw C, Tongsima S, Ketudat Cairns JR, Olsen B, Intachai W, Ohazama A, Tucker AS, Amendt BA.   +15 more
europepmc   +1 more source

A Clinically Compatible Method for Generating Preoperative Finite Element Models to Simulate Facial Appearance and Movements in Orthognathic Surgery

International Journal for Numerical Methods in Biomedical Engineering, Volume 42, Issue 2, February 2026.
This study focuses on the development of a new method, compatible with a clinical routine, for generating pre‐surgery patient‐specific Finite Element (FE) meshes from a reference mesh, as faithful as possible to the anatomy, including soft tissues (skin, hypodermis, muscles) as well as bony structures (mandible and maxilla).
Marie‐Charlotte Picard, Mohammad Ali Nazari, Pascal Perrier, Georges Bettega, Rodolphe Lartizien, Michel Rochette, Yohan Payan   +6 more
wiley   +1 more source

Assessing the Relationship Between the Eichner Index and Articular Eminence Inclination in Temporomandibular Dysfunction: A Cross‐Sectional Study

Clinical and Experimental Dental Research, Volume 12, Issue 1, February 2026.
ABSTRACT Background The articular eminence is essential for the proper functioning of the temporomandibular joint (TMJ), guiding the movement of the mandibular condyle along its posterior slope. Changes in the inclination of the articular eminence (AEI) can occur as a result of tooth loss or aging.
Maryam Paknahad, Leila Haghighi, Sonia Dokohaki   +2 more
wiley   +1 more source