Results 221 to 230 of about 879,135 (289)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Case Report: Ultra-early nusinersen initiation with pre-procedural spinal ultrasound-assisted intrathecal access in a symptomatic neonate with spinal muscular atrophy. [PDF]

Front Pediatr
Xie N, Sui Y, Zhang Y, Zhang L, Li J, Sun Y, Liu X.   +6 more
europepmc   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2128-2135, September 2026.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Case Report: A novel <i>HNRNPK</i> gene variant causing Au-Kline syndrome; the genotype and phenotype of the oldest individual ever described. [PDF]

Front Psychiatry
Bos-Roubos AG, Te Brinke R, Kattentidt-Mouravieva AA, Pfundt R, de Graaff LCG, Wingbermühle E, Egger JIM.   +6 more
europepmc   +1 more source

Jacobs Syndrome Presenting With Delayed Puberty and Central Hypogonadism: A Rare Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT In some rare instances, patients with 47,XYY syndrome can be short in height, accompanied by hypogonadism without the characteristic tall stature. In cases where there is delayed puberty and unusual growth pattern, a complete endocrine work‐up, including GnRH and hCG stimulation tests, along with chromosome studies, is vital.
Muhammad Hassaan Javaid, Ayesha Ahmad, Amna Ahmad, Muhammad Ajmal Khamosh, Muhammad Hanzla   +4 more
wiley   +1 more source

Fatal Infantile Cardiomyopathy Associated with a Homozygous <i>MYL2</i> c.413T>A (p.Met138Lys) Variant: A Case Expanding the Recessive <i>MYL2</i> Phenotypic Spectrum. [PDF]

Genes (Basel)
Uddin MS, Alnamshan Y, Shafeen K, Jahan SN, AlMadhi N, Gurumurthy K, Hassan AB, Esmail A, AlQannas M.   +8 more
europepmc   +1 more source

Pontine Tegmental Cap Dysplasia Presenting With Global Developmental Delay and Vestibulocochlear Nerve Aplasia: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT PTCD should be considered in children with developmental delay and sensorineural hearing loss. MRI is crucial for identifying the characteristic dorsal “tegmental cap” and associated hindbrain anomalies. Vestibulocochlear nerve aplasia may explain severe hearing impairment in PTCD.
Khawar Bilal, Muhammad Owais Rao, Syed Muhammed Salman Hassan, Arnella Husenaj Tagani, Naila Nadeem, Sarim Hassan Shahab, Fazal Habib   +6 more
wiley   +1 more source

Cross-Species Conservation and Function of ALDH6A1/Aldh6a1 Validate Zebrafish and Mouse as Complementary Experimental Systems for Methylmalonate Semialdehyde Dehydrogenase Deficiency. [PDF]

Biology (Basel)
Zhang Y, Yue X, Xiong Q, Li P, Wu C.
europepmc   +1 more source

Infantile Epileptic Spasms Syndrome Complicating Mosaic Down‐Turner Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Severe baseline developmental delays in complex genetic syndromes like Down‐Turner mosaicism can completely mask the psychomotor regression of Infantile Epileptic Spasms Syndrome (IESS). Clinicians must maintain a high index of suspicion and prioritize early video‐EEG screening for any abnormal paroxysmal movements.
Mohammad Shahrori, Khadeeja Nofal, Hasan H. Alkhawaja, Waed Mohsen, Ainaa A. Alzamari   +4 more
wiley   +1 more source

Infant Botulism in Costa Rica: A Case Report Featuring Electrodiagnostic Studies. [PDF]

Cureus
Hong A, Santos AB, Poveda D, Gutiérrez-Mata A, Ulate-Campos A.   +4 more
europepmc   +1 more source