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http://dx.doi.org/10.1007/s10815-012-9778-y | DOI Listing |
J Pediatr Endocrinol Metab
July 2025
Department of Pediatrics, 208512 Kagoshima University Graduate School of Medical and Dental Science, Kagoshima, Japan.
Objectives: To describe four members of a family with DAX1 deficiency caused by a novel variant.
Case Presentation: All family members carried a novel hemizygous variant, p.Gln318Alafs*71.
NAR Genom Bioinform
June 2025
Centre National de la Recherche Scientifique, I nstitut de Pharmacologie Moléculaire et Cellulaire, 06560 Valbonne-Sophia Antipolis, France.
AlphaMissense is a valuable resource for discerning important functional regions within proteins, providing pathogenicity heatmaps that highlight the pathogenic risk of specific mutations along the protein sequence. However, due to protein folding and long-range interactions, the actual structural alterations with functional implications may be occurring at a distance from the mutation site. As a result, the identification of the most sensitive structural regions for protein function may be hampered by the presence of mutations that indirectly affect the critical regions from a distance.
View Article and Find Full Text PDFFront Pediatr
January 2025
Division of Paediatric Surgery & Paediatric Urology, Department of Surgery, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, Hong Kong SAR, China.
Objective: A firm diagnosis revealing the etiology of disorders/differences of sex development (DSD) is most helpful in guiding clinical management. The aim of this study is to investigate molecular genetic diagnoses and surgical treatment in a cohort of children with 46,XY DSD.
Methods: A retrospective study was conducted on children with 46,XY DSD.
J Pediatr Endocrinol Metab
December 2024
Department of Pediatric Endocrinology, Stony Brook Children's Hospital, Stony Brook, NY, USA.
Endokrynol Pol
October 2024
Clinic of Allergy and Immunology, University Clinical Center of Serbia, Faculty of Medicine University of Belgrade, Belgrade, Serbia.