Results 11 to 20 of about 1,610 (176)

Genetic Evidence of a Recent Decline and Crossbreed Distribution of TRPV4 c.1024G>T Variant in Domestic Cats [PDF]

Animal Genetics, Volume 57, Issue 3, June 2026.
ABSTRACT The folded ear phenotype of Scottish Fold cats is associated with an autosomal dominant TRPV4 variant (c.1024G>T) linked to osteochondrodysplasia. Although genetic testing has been implemented to guide breeding, empirical evidence of its impact on allele frequency remains limited, and crossbreed investigations are lacking.
Hisashi Ukawa, Ayako Akashi, Hinako Hayashi, Saaya Hiyoshi‐Kanemoto, Haruka Onishi, Kai Ataka, Yuki Matsumoto   +6 more
wiley   +2 more sources

Novel Genetic Findings in Stuve‐Wiedemann Syndrome: A Case Report and Review of Literature [PDF]

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Stuve‐Wiedemann Syndrome (SWS) is a rare autosomal recessive condition, first reported in 1971 by Stuve and Wiedemann. It is associated with pathogenic or likely pathogenic homozygous or compound heterozygous variants in the Leukemia Inhibitory Factor Receptor (LIFR) gene.
Khalid Hamasalih Hamasharef, Zana Baqi Najmadden, Rozhgar AKhailany, Muhammad Jabar Rashid, Kaiwan Hamakarim   +4 more
wiley   +2 more sources

Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report [PDF]

Molecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.
A novel COL9A3 splice‐site variant was identified in a 14‐year‐old male misdiagnosed with juvenile idiopathic arthritis, confirming multiple epiphyseal dysplasia and emphasizing molecular testing as the key to unlocking accurate diagnosis in genetically heterogeneous skeletal disorders.
Bashayer Alnuaimi, Valancy Miranda, Anne Marie Sbrocchi, Philippe M. Campeau, Sarah Campillo, Piya Lahiry   +5 more
wiley   +2 more sources

The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve–wiedemann Syndrome: Retrospective Case Series and Prenatal Review [PDF]

Journal of Medical Ultrasound
Background: Stuve–Wiedemann syndrome (SWS) is a rare skeletal abnormality with extensive postnatal literature but limited prenatal studies. Our group had published a diagnostic algorithm to identify prenatal cases, yet, the challenge continues ...
Muzibunnisa A Begam, Muhammad Hasan, Fares Chedid, Hisham Mirghani   +3 more
doaj   +2 more sources

Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding [PDF]

Molecular Genetics & Genomic Medicine
Background Acromesomelic chondrodysplasias are a rare subgroup of the clinically and genetically heterogeneous osteochondrodysplasias that are characterised by abnormalities in the limb development and short stature.
Ibrahim M. Abdelrazek, Alexej Knaus, Behnam Javanmardi, Peter M. Krawitz, Denise Horn, Ebtesam M. Abdalla, Sheetal Kumar   +6 more
doaj   +2 more sources

Síndrome de Grebe. Reporte de un caso. [Grebe syndrome. Case report.]

Revista de la Asociación Argentina de Ortopedia y Traumatología, 2018
La condrodisplasia de Grebe es un trastorno raro autosómico recesivo que pertenece al grupo de las osteocondrodisplasias. Clínicamente se caracteriza por un severo dismorfismo con una marcada micromelia y deformidad de las extremidades inferiores y ...
Jessica Andrea Suárez Zarrate, Ricardo Arias Arguello, Sebastián Rodríguez Serna   +2 more
doaj   +3 more sources

Spondyloenchondrodysplasia: a rare cause of short stature [PDF]

The Turkish Journal of Pediatrics, 2011
Skeletal dysplasias (osteochondrodysplasias) are a group of diseases that must be included in the differential diagnosis of disproportionate short stature.
Gül Yeşiltepe-Mutlu, Elif Ozsu, Filiz Mine Cizmecioğlu, Yasemin Alanay, Sükrü Hatun   +4 more
doaj   +2 more sources

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders [PDF]

Acta Paediatrica, Volume 114, Issue 7, Page 1720-1730, July 2025.
ABSTRACT Aim Type II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1. We also aim to evaluate the safety and efficacy of growth hormone (GH) therapy in two SEDC patients.
Shumin Zhan, Qin He, Jinna Yuan, Xiaoqin Xu, Ke Huang, Guanping Dong, Junfen Fu, Dingwen Wu, Wei Wu   +8 more
wiley   +2 more sources

Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature [PDF]

Advanced Genetics, Volume 6, Issue 3, September 2025.
The current study describes a novel type of brachydactyly, characterized by absent phalanges in the toes. Whole genome sequencing identified rare missense variants in the BMP8A and FGFR1 genes, both of which are known to play a role in bone development. Bioinformatic and protein network analysis support their involvement in bone deformities.
Luke Hunter, Muhammad Ilyas
wiley   +2 more sources

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders

, 2021
Bone dysplasias (osteochondrodysplasias) are a large group of conditions associated with short stature, skeletal disproportion, and radiographic abnormalities of skeletal elements. Nearly all are genetic in origin.
Ingrid Kühnle, Mozzato, Chiara, Ann Nordgren, Superti‐Furga, Andrea, Caterina Cancrini, Kramm, Christof Maria, Gen Nishimura, Bonafè, Luisa, Anna Hammarsjö, Zuccarello, Daniela, Putti, Caterina, Daniela Zuccarello, Finocchi, Andrea, Lorenzo D. Botto, Kühnle, Ingrid, Marie Meeths, Andrea Finocchi, Alanay, Yasemin, Chiara Mozzato, Sheila Unger, Unger, Sheila, Birgit Zirn, Giedre Grigelioniene, Superti-Furga, Andrea, Zirn, Birgit, Melita Irving, Christof Maria Kramm, Caterina Putti, Campos‐Xavier, Belinda, Henter, Jan‐Inge, Henter, Jan Inge, Jan‐Inge Henter, Campos-Xavier, Belinda, Grigelioniene, Giedre, Nordgren, Ann, Yasemin Alanay, Irving, Melita, Sabir, Ataf, Jones, Wendy D., Laura Mazzanti, Emanuela Scarano, Nishimura, Gen, Bergamaschi, Rosalba, Wendy D. Jones, Mazzanti, Laura, Rosalba Bergamaschi, Botto, Lorenzo D., Birgit Borgström, Belinda Campos‐Xavier, Cancrini, Caterina, Scarano, Emanuela, Andrea Superti‐Furga, Meeths, Marie, Ataf Sabir, Luisa Bonafè, Borgström, Birgit, Hammarsjö, Anna, Botto, L.D., Putti, C., Scarano E, Jones WD, Superti-Furga, A., Meeths M, Alanay Y, Hammarsjö, A., Kühnle, I., Jones, W.D., Kühnle I, Hammarsjö A, Henter, J.I., Zirn, B, Cancrini C, Grigelioniene, G., Kramm CM, Finocchi, A., Mazzanti, L, Bergamaschi R, Zuccarello D, Campos-Xavier, B, Kramm, C.M., Alanay, Y., Finocchi A, Nishimura G, Unger S, Irving M, Mozzato, C., Zuccarello, D., Henter JI, Bonafè, L., Finocchi, A, Bergamaschi, R., Nordgren, A., Bergamaschi, R, Sabir A, Meeths, M,, Kuehnle, I, Meeths, M., Campos-Xavier B, Botto LD, Zirn, B., Borgström B, Zirn B, Bonafè L, Campos-Xavier, B., Mozzato C, Mazzanti L, Cancrini, C., Cancrini, C, Mazzanti, L., Grigelioniene G, Nordgren A, Botto, LD, Irving, M., Sabir, A., Nishimura, G., Putti C, Superti-Furga A., Scarano, E, Unger, S., Scarano, E., Borgström, B.   +120 more
core   +1 more source