Results 241 to 250 of about 69,423 (350)

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger   +3 more
wiley   +1 more source

Cutting‐Edge Advancements in Physical Stimulation for Spiral Ganglion Neuron Protection and Regeneration

open access: yesAdvanced NanoBiomed Research, Volume 5, Issue 12, December 2025.
Physical stimulation strategies have emerged as a therapeutic avenue for the regeneration of spiral ganglion neurons. This review explores diverse physical stimulation modalities—including topographical modulation, electrical stimulation, and photostimulation—each operating through distinct mechanisms to regulate SGN biological behavior. By elucidating
Yuhan Bai   +7 more
wiley   +1 more source

Early life functional transitions impact craniofacial morphology in osteogenesis imperfecta

open access: yesThe Anatomical Record, Volume 308, Issue 12, Page 3157-3174, December 2025.
Abstract Early life behaviors have a profound role in shaping adult craniofacial morphology. During early life, all mammals undergo the dynamic transition from suckling to mastication, a period coinciding with rapid cranial biomineralization. Osteogenesis imperfecta (OI), a genetic disorder that impacts the production of type I collagen, disrupts ...
Courtney A. Miller   +2 more
wiley   +1 more source

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