Results 71 to 80 of about 14,547 (258)

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Pectus Excavatum

Sharma G, Carter YM.
europepmc   +2 more sources

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

Epilepsia Open, Volume 11, Issue 2, Page 643-651, April 2026.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Francesca Madia, Maria Margherita Mancardi, Stefania Fornarino, Luca Bosisio, Zahra Hoseini Tavassol, Mir Davood Omrani, Federico Zara, Marcello Scala   +10 more
wiley   +1 more source

PECTUS CARINATUM DEVELOPMENT AFTER THE NUSS PROCEDURE: A CASE REPORT

Turkish Medical Student Journal
Development of pectus carinatum is a very rare complication of the Nuss procedure. This complication may lead to early bar removal, which hinders sternal protrusion but induces the recurrence of pectus excavatum.
Zafer Alparslan, Mustafa Yüksel
doaj   +1 more source

Optimizing the integration of modern systemic therapies and advanced radiotherapy techniques in breast cancer management: An expert opinion from the Institut Curie Breast Radiotherapy Group

International Journal of Cancer, Volume 158, Issue 7, Page 1775-1784, 1 April 2026.
Abstract The integration of modern systemic therapies with radiotherapy (RT) represents a promising strategy in breast cancer management, enhancing both locoregional control and systemic disease outcomes. This expert consensus from the Institut Curie Breast Radiotherapy Group focuses exclusively on modern systemic agents, synthesizing current evidence ...
Cezara Cheptea, Pierre Loap, Sofiane Allali, Alain Fourquet, Kim Cao, Youlia Kirova   +5 more
wiley   +1 more source

Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7 [PDF]

, 2016
Background: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back ...
Back, Willem, Bastiaansen, John WM, Boegheim, Iris J, Dibbits, Bert W, Ducro, Bart J, Hellinga, Ids, Leegwater, Peter A, Monroe, Glen R, Nijman, Isaac J, Schurink, Anouk, van de Goor, Leanne H, van Steenbeek, Frank G, Vos-Loohuis, Manon   +12 more
core   +4 more sources

Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant

Prenatal Diagnosis, EarlyView.
Haley M. Crane, Rose Giardine, Alanna Strong, K. Taylor Wild, Elaine Zackai, Lorraine Dugoff, Teresa N. Sparks, Beverly Coleman, Julie S. Moldenhauer   +8 more
wiley   +1 more source

Noonan Syndrome Presenting With Severe Transient Thrombocytopenia and Hemolytic Anemia in a Neonate With a Germline PTPN11 Pathogenic Variant

eJHaem, Volume 7, Issue 2, April 2026.
ABSTRACT Noonan syndrome (NS) is a RASopathy that can have hematological presentations, most commonly NS‐related myeloproliferative disorder (NS/MPD) and juvenile myelomonocytic leukemia. Other neonatal hematologic presentations remain poorly defined.
Ariel Gershon, Tanvi Anandampillai, Elaine Suk‐Ying Goh, Caroline Malcolmson, Yiming Wang   +4 more
wiley   +1 more source

EVALUATION OF IDIOPATHIC SCOLIOSIS IN SUBTYPES OF PECTUS EXCAVATUM AND CARINATUM [PDF]

Acta Ortopédica Brasileira
Objective: Evaluation of epidemiological data on Idiopathic Scoliosis in patients with different pectus subtypes. Methods: A medical record analysis of 418 patients with pectus, associated with idiopathic scoliosis above 10°, with research on: subtypes ...
Davi de Podesta Haje, Guilherme Antunes Barriviera, Marcos Vinícius Santana Silva, Caroline Kaori Maebayashi   +3 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source