Results 161 to 170 of about 48,690 (312)

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 459-467, February 2026.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 496-501, February 2026.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Combination of midfoot derotational osteotomy and ankle arthrodesis against neglected clubfoot: a case report. [PDF]

J Surg Case Rep
Etani Y, Noguchi T, Hirao M, Miyake T, Okada S, Nakata K, Ebina K.   +6 more
europepmc   +1 more source

Congenital Knee Dislocation: A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Congenital knee dislocation (CKD) is a rare anomaly characterized by anterior and lateral displacement of the tibia in relation to the femur. Its incidence is 0.017 per 1000 live births, predominating in the female sex. Its etiology is unknown, but intrinsic (genetic) and extrinsic (mechanical) predisposing factors have been identified ...
Miguel Castro‐Lara, Gricelda Elizabeth Palencia Sagastume, Kristhel Gaitán‐Zambrano, Carlos Hernan Baca Garcia, Johana Azucena Palencia Sagastume, José Maradiaga   +5 more
wiley   +1 more source

Management of Relapsed, Residual, and Resistant Idiopathic Congenital Talipes Equinovarus. [PDF]

J Orthop Case Rep
Ansari MO, Siddiqui YS, Harun F, Rana T, Hari K, Abbas M.   +5 more
europepmc   +1 more source

Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond‐shaped plates that cover a significant portion of their bodies.
Nadia Soltani, Zahra Bayati, Mohsen Soosanabadi, Akbar Zamani, Asghar Lotfi, Milad Gholami   +5 more
wiley   +1 more source

Enhanced preoperative planning in congenital polydactyly: superior assessment of MCP/MTP joint angular deformity with 3D-FS-FSPGR MRI compared to conventional radiography. [PDF]

Front Pediatr
Li J, Yun Q, Jia Y, Long J, Wang Q, Yang Y, Xu S.   +6 more
europepmc   +1 more source

Retrospective Review of Perioperative Neonatal Echocardiography for Non‐Cardiac Surgery at a Quaternary Level Academic Hospital in Johannesburg, South Africa

Pediatric Anesthesia, Volume 36, Issue 3, Page 326-328, March 2026.
Bronwyn Faith Krause, Firoza Motara, Zainub Jooma   +2 more
wiley   +1 more source

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +1 more source

Soft tissue balancing procedure with CASC assessment system for postaxial polydactyly and curled fifth toe deformity. [PDF]

BMC Musculoskelet Disord
Liao W, Xu L, Wang D, Wang B, Zhang Z.
europepmc   +1 more source