Results 51 to 60 of about 10,163 (166)

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Change‐of‐function fibroblast growth factor receptor 3 mutations causing skeletal dysplasias

Journal of Cell Communication and Signaling, Volume 20, Issue 4, December 2026.
We show that the ligands FGF1 and FGF2 elicit differential fibroblast growth factor receptor 3 (FGFR3) signaling responses and that the FGFR3 G380R and A391E mutations reshape these signaling outputs. Thus, pathogenic FGFR3 mutations found in skeletal dysplasia do not simply enhance signaling strength and should be reclassified from “gain‐of‐function ...
Tanaya Roy, Zuzana Feketova, Jiawei Liu, Pavel Krejci, Kalina Hristova   +4 more
wiley   +1 more source

Anesthetic Management of Patient for Case with Apert Syndrome

Haseki Tıp Bülteni, 2018
Apert syndrome is an autosomal dominant inherited mandibulofacial dysostosis characterized by craniosynostosis, syndactyly, high forehead, broad nose, maxillary hypoplasia, synostosis of cervical vertebrae, organ malformations, and mental retardation. It
Gamze Küçükosman, Bengü Gülhan Aydın, Bahar Aktaş, Hilal Ayoğlu   +3 more
doaj   +1 more source

Total duplication of the femur and polydactyly in the same limb of a Korean native calf

Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.
Abstract This case report describes a neonatal Korean native calf presenting with total duplication of the femur and polydactyly within the same hindlimb—an extremely rare congenital anomaly not previously reported in cattle. The calf exhibited marked structural deformities and inability to stand independently.
Geonil Moon, Suyoung Heo, Namsoo Kim
wiley   +1 more source

Surgical treatment of syndactilia and our results

Acta Orthopaedica et Traumatologica Turcica, 2021
Between the years 1992 - 1996, 16 patients with 33 syndactyly webs had undergone surgery at our institution. The digits seperated by multiple zig-zag incisions. For web reconstruction, Bauer s dorsal rectanguler flap is used. Mean follow-up period was 15,
Taskin Altay, Haluk Altiok, Ahmet Kaya, M. Rifki Us, Hasan Ozturk   +4 more
doaj  

Linear Cutaneous and Craniofacial Anomalies in a Female Infant

JEADV Clinical Practice, EarlyView.
Kim H. Tran, Kimia Ameri, Joseph M. Lam
wiley   +1 more source

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

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

A Novel Homozygous Frameshift Variant in ZNF699 Associated With DEGCAGS Syndrome With Severe Transfusion‐Dependent Anemia in an Indian Child: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT In children with unexplained multisystem involvement—global developmental delay, dysmorphism, skeletal anomalies, and severe transfusion‐dependent anemia—especially from consanguineous families, whole‐exome sequencing should be pursued early to enable timely diagnosis, proactive iron chelation, and genetic counseling.
Arimanda Chaitanya Laasya Reddy, A. Vamshee Priya, Aditya Pachwa, Boilla Abhignya Reddy, Lakshya Nehal Samineni, Lanka Gourav Reddy   +5 more
wiley   +1 more source

Case Report: Congenital absence of the fifth metacarpal with polydactyly and syndactyly

Frontiers in Pediatrics
Congenital hand malformations encompass various types, with polydactyly and syndactyly being common. However, congenital absence of the metacarpal is rarely reported, and literature on this condition remains limited.
Zhihong Qin, Xiaolin Luo, Xiaofei Ding, Shijie Liao   +3 more
doaj   +1 more source