Results 191 to 200 of about 39,956 (278)

A homozygous variant in <i>FGFR3</i> causing lethal skeletal dysplasia. [PDF]

Sudan J Paediatr
Rahbeeni Z, Al-Shahrani H, Noon M, Mohamed S.   +3 more
europepmc   +1 more source

Genetic Bone Diseases: A Scoping Review of Pathology, Symptoms, Diagnosis, Treatment, and New Horizons

Advanced Genetics, Volume 7, Issue 2, June 2026.
This review highlights six genetic diseases of the bone, aiming to provide clinicians and researchers with updated information on their diagnosis and treatment. It also includes an assessment of common clinical and radiographic findings, along with pathophysiology related to diseases.
Colin Jones, Ambalangodage C. Jayasuriya
wiley   +1 more source

Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia. [PDF]

Eur J Pediatr
Daşar T, İmren G, Yıldız AE, Demir GÜ, Utine GE, Yılmaz G, Kiper PÖŞ.   +6 more
europepmc   +1 more source

Juvenile idiopathic arthritis or skeletal dysplasia: first case report of camptodactyly-arthropathy-coxa vara-pericarditis from Iran. [PDF]

BMC Musculoskelet Disord
Shashaani N, Javadi V, Rahmani K, Shiari R.   +3 more
europepmc   +1 more source

Mutations in fibronectin dysregulate chondrogenesis in skeletal dysplasia. [PDF]

Cell Mol Life Sci
Dinesh NEH, Rousseau J, Mosher DF, Strauss M, Mui J, Campeau PM, Reinhardt DP.   +6 more
europepmc   +1 more source

Age at the time of surgery does not compromise the outcome of deepening trochleoplasty: Results from under and over 30 years old

Knee Surgery, Sports Traumatology, Arthroscopy, Volume 34, Issue 6, Page 1970-1976, June 2026.
Abstract Purpose This study aimed to evaluate whether age at the time of surgery influences patient‐reported outcome measures (PROMs) in patients undergoing tailored surgical treatment for lateral patellar dislocation (LPD), including deepening trochleoplasty (TP). Methods This retrospective cohort study used a prospectively maintained database.
Danko Dan Milinkovic, Felix Zimmermann, Julian Fluegel, Sebastian Schmidt, Peter Balcarek   +4 more
wiley   +1 more source

Genetic Analysis of Pitt–Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 Gene

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel pathogenic splicing variant (TCF4c.1146+3A>T) was identified in a fetus with increased nuchal translucency. The variant disrupts normal splicing, causing exon 14 skipping and protein truncation, which is consistent with Pitt–Hopkins Syndrome.
Wenlong Shen, Yan Zhang, Junjie Wu, Jue Zhao, Yaer Lv, Xiaohua Tang   +5 more
wiley   +1 more source

Skeletal dysplasia-causing mutations in TRPV4 alter the chondrocyte transcriptomic response to mechanical loading. [PDF]

Am J Physiol Cell Physiol
Harissa Z, Kim Y, Dicks AR, Steward N, Guilak F.   +4 more
europepmc   +1 more source

A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
We report a neonatal SDS patient with earliest onset of symptoms. The c.2935C>T and c.3149_3151delCAC compound heterozygous variants reported in this study expand the mutational spectrum of this disease. ABSTRACT Objective This investigation reports on a Shwachman‐Diamond syndrome (SDS) case arising from compound heterozygous genetic variations ...
Xiaoying Zhou, Hongxin Li, Xinyi Yang, Chunli Wang, Wenting Zhang   +4 more
wiley   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, Volume 46, Issue 7, Page 1122-1129, June 2026.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source