Results 181 to 190 of about 49,640 (282)

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 1, Page 29-35, July 2026.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Congenital nephrotic syndrome with fulminant clinical course: A lesson for primary care physician. [PDF]

J Family Med Prim Care
Singh N, Priyanka, Singh R, Dhamija S, Bhalla K, Mehra S.   +5 more
europepmc   +1 more source

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, Volume 68, Issue 7, Page 909-915, July 2026.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source

Prenatal Ultrasound and Genetic Diagnosis of <i>EFTUD2</i> Haploinsufficiency in Two Fetuses: A Case Series. [PDF]

Appl Clin Genet
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A.   +8 more
europepmc   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Bridging the anatomical gap: evolutionary conservation of genetic mechanisms in corpus callosum disorders across human, mouse, and zebrafish. [PDF]

Front Mol Neurosci
Ayushma, Srivastava PP, Minocha S.
europepmc   +1 more source

Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Visualization of ZPR1 protein variants. ABSTRACT We report the case of a 13‐month‐old female with multiple congenital anomalies including microcephaly, generalized hypotonia, sensorineural hearing loss, visual impairment, alopecia, and hypoplastic kidneys with chronic kidney disease, and dysmorphic craniofacial features.
Giavanna Verdi, Aleksandra Foksinska, Elizabeth L. Nichols, Erinn O. Schmit, Andrew Watson, Madeline Eckenrode, Nathaniel H. Robin   +6 more
wiley   +1 more source

Expression of Purinergic and Endothelial Activation Markers in Brain Tissue From Fatal Microcephaly Associated With ZIKV. [PDF]

Immun Inflamm Dis
Sousa JR, Batista Ferro G, Vieira Teixeira L, Silva C, Lima L, Neto O, Azevedo R, Chiang JO, Casseb LMN, Filho AJM, Martins LC, Quaresma JAS, Vasconcelos PFDC.   +12 more
europepmc   +1 more source

Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT We report the first Cat Eye Syndrome case from Sudan: a 5‐month‐old female with growth retardation, craniofacial dysmorphism, congenital cataract without iris coloboma, and ventricular septal defect. Cytogenetics confirmed 47,XX,+idic(22)(q11.2).
Rayan Khalid, Imad Fadl‐Elmula
wiley   +1 more source

A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières syndrome type 5: a case report and literature review. [PDF]

Front Pediatr
Yousaf H, Zonash Z, Manzoor J, Ali A, Khalid LB, Zafar G, Ali S, Toft M, Fatima A, Iqbal Z.   +9 more
europepmc   +1 more source