3 results match your criteria: "Genetic Disease Center[Affiliation]"
Unilateral polycystic kidney with PKHD1 gene mutation.
Kidney Res Clin Pract
November 2024
Department of Internal Medicine, Chungbuk National University Hospital, Cheongju, Republic of Korea.
Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome.
Brain Dev
April 2022
Tepecik Training and Research Hospital, Genetic Disease Center, Turkey. Electronic address:
Background: Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been associated with spinal muscular atrophy with predominant lower extremity involvement (SMA-LED), Charcot-Marie-Tooth 2O (CMT2O) disease, cortical migration anomalies, and autosomal dominant mental retardation13. SMA-LED phenotype-related mutation was found in the DYNC1H1 gene in the patient who applied with the complaint of gait disturbance.
Methods: Pathogenic heterozygous c.
A Novel Mutation p.L461P in Causing Localized Epidermolysis Bullosa Simplex.
Ann Dermatol
February 2021
State Key Laboratory of Ophthalmology, Optometry and Vision Science, Wenzhou Medical University, Wenzhou, China.
Background: Epidermolysis bullosa (EB) is a rare genetic disease with widely different clinical manifestations, but the relationship between genotype and phenotype is not fully understood. In the present study, we recruited a Chinese family in which two members had been diagnosed with localized EB simplex (EBS), with clinical manifestation, including blisters and erosions on the soles of the feet since infancy.
Objective: To identify and confirm the genetic variation in a Chinese family diagnosed as localized EBS.