Results 191 to 200 of about 2,781,607 (301)

Unclassified COL6A1 Variant in a Child With Congenital Hypotonia: A Case Report [PDF]

Clin Case Rep
ABSTRACT We report a 3‐year‐old male with congenital hypotonia, proximal contractures, and distal hyperlaxity. Exome sequencing identified a novel homozygous COL6A1 variant (c.2821C>T), classified as a variant of uncertain significance. The distinct phenotype strongly supports Ullrich congenital muscular dystrophy, expanding the gene's mutational ...
Nofal K, Ghaith H, Barghouthi H, Shahrori M, Darraj B, Hetta A.   +5 more
europepmc   +2 more sources

Strategic Design of Soft Actuators in Translational Medical Robotics for Human‐Centered Healthcare

Advanced Robotics Research, Volume 2, Issue 5, October 2026.
Soft robotics enables biocompatible, compliant medical devices, but clinical translation requires design‐driven engineering beyond materials. This perspective reviews implantable, surgical, and wearable systems by actuation mechanism, highlighting how optimized architectures and integration improve mechanical interfacing, adaptability, and durability ...
Ho Jun Jin, Jimin Kim, Inho Kim, Bong Hoon Kim   +3 more
wiley   +1 more source

Time of diagnosis of congenital upper limb anomalies: a cohort study of 703 patients from a local registry in Norway. [PDF]

Acta Orthop
Sletten IN, Winge MI, Jokihaara J.
europepmc   +1 more source

Ciliary Membrane Lipid Homeostasis in Health and Disease

Advanced Science, Volume 13, Issue 58, 19 October 2026.
This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Zhenzhou Huang, Yuan‐yuan Liu, Hanqi Sun, Peiwei Liu   +3 more
wiley   +1 more source

Exploring Upper Limb Malformation Associated With Cornelia De Lange Syndrome: A Clinical Case Report. [PDF]

Case Rep Obstet Gynecol
Kurniawan AP, Abdurrazak G, Muthalib AA, Hasani RDK.   +3 more
europepmc   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

A variant of uncertain significance in COL7A1 in Bart syndrome: A case report. [PDF]

JAAD Case Rep
La T, Gordon K.
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

A case report with imaging findings of a rare case of fetal Poland syndrome: Right-sided rib hypoplasia with diaphragmatic bulging. [PDF]

Radiol Case Rep
Feng Y, Qin W, Yang S.
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2234-2240, October 2026.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source