Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome. [PDF]
Mol Genet Genomic MedWe reported a 5‐generation family with autosomal dominant Waardenburg syndrome and identified a heterozygous variant of the SOX10 gene by exome sequencing and Sanger sequencing. In addition, we performed prenatal diagnosis for family related individual.
Hou F +5 more
europepmc +2 more sources
Waardenburg-Shah syndrome: A case of neonatal palliative care. [PDF]
Pediatr DiscovPediatric Discovery, Volume 2, Issue 4, December 2024.
Colpani M +3 more
europepmc +2 more sources
A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II. [PDF]
Mol Genet Genomic MedIn this diagram, each gene is represented by a “protein dimer”. When the SOX10 gene is not mutated, genes associated with SOX10 contribute to the normal development of the auditory nerve and eye, as indicated by the red arrow representing their interaction pathway.
Ma X, Zhao L, Li L, Li X, Ding C, Ma J.
europepmc +2 more sources
CORRECTIONS : A note on heterochromia iridis. [PDF]
J Neurol Neurosurg Psychiatry, 1994 europepmc +3 more sources
A 22q13.1 duplication in mosaicism including SOX10
American Journal of Medical Genetics Part A, Volume 191, Issue 12, Page 2813-2818, December 2023., 2023 Abstract Waardenburg syndrome (WS) is characterized by the association of sensorineural hearing loss and pigmentation abnormalities. Among the four types, WS Type 2 (WS2) is the only one without a remarkable distinguishing feature. Here, we report a patient initially diagnosed with WS2 who exhibits a 446 kb mosaic duplication in chromosome 22q13.1 ...
William Bertani‐Torres +12 more
wiley +1 more source
Survey of ocular abnormalities in draft horses
Veterinary Ophthalmology, Volume 26, Issue 2, Page 101-107, March 2023., 2023 Abstract Objective To determine the prevalence of ocular disease in draft horses in the United States. Animals Draft horses of various breeds and ages. Procedure Nondilated ophthalmic examination was performed using slit lamp biomicroscopy and indirect ophthalmoscopy. Intraocular pressures were measured when possible.
Colleen K. Sheridan +3 more
wiley +1 more source
A Survey on Congenital Head Malformations in Calves
Journal of Applied Veterinary Sciences, 2022 Congenital malformations are structural and functional abnormalities that present at birth. Congenital head malformations were present in 231 (22 bovine and 209 buffalo) calves referred to Mansoura veterinary teaching hospital, beside private farm ...
Esam Mosbah +2 more
doaj +1 more source
Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High-Throughput Sequencing in a Unique Cohort from South India. [PDF]
Adv Genet (Hoboken)A comprehensive analysis of the genetic makeup of a unique cohort of males with hearing impairment and infertility uncovers a wide range of gene variations spanning seven chromosomes, highlighting significant genetic heterogeneity within this disorder.
Justin Margret J +4 more
europepmc +2 more sources
Comprehensive medical evaluation of pediatric bilateral sensorineural hearing loss
Laryngoscope Investigative Otolaryngology, Volume 6, Issue 5, Page 1196-1207, October 2021., 2021 Abstract Children with bilateral sensorineural hearing loss (SNHL) should undergo a comprehensive medical evaluation to determine the underlying etiology and help guide treatment and counseling. In this article, we review the indications and rationale for medical evaluation of pediatric bilateral SNHL, including history and physical examination ...
Suat Kılıç +5 more
wiley +1 more source
Developmental delay and assessment in an infant with PCWH syndrome: A case report
Annals of Movement Disorders, 2023 Peripheral demyelinating polyneuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung’s disease is a rare genetic disorder caused by de novo variants in the SOX10 gene.
Ashna Kumar +5 more
doaj +1 more source