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A novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.
Hum Mol Genet
January 2025
Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University, No. 83 Fenyang Road, Xuhui District, Shanghai 200031, China.
Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by congenital sensorineural hearing loss, blue iris, and abnormal pigmentation of the hair and skin. WS2 is genetically heterogeneous, often resulting from pathogenic mutations in SOX10 gene. We identified a novel heterozygous frameshift mutation in SOX10 (NM_006941.
View Article and Find Full Text PDFNavigating Hope and Complexity: Turkish Parents' Experiences with Savior Siblings.
Turk J Haematol
January 2025
Acibadem Adana Hospital, Pediatric BMT Unit, Adana, Türkiye.
Background/aims: Preimplantation genetic diagnosis (PGD) with human leukocyte antigen (HLA) typing represents a significant advancement in treating inherited hematological disorders, particularly thalassemia major. This technology enables the birth of healthy children who can serve as compatible stem cell donors for their affected siblings. Turkey is a world leader in both PGD+HLA typing technology and hematopoietic stem cell transplantation from savior siblings born through PGD+HLA typing.
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