A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys–Dietz syndrome due to a pathogenic variant in TGFBR2
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DOI: 10.1080/13816810.2025.2565633
Abstract: ABSTRACT Introduction Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disorder most commonly due to pathogenic variants in the transforming growth factor beta receptor genes TGFBR1 and TGFBR2. There have been reports of… read more here.
Keywords: variant; tgfbr2; dietz syndrome; loeys dietz ... See more keywords
Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association
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DOI: 10.1155/2018/4283267
Abstract: Kleefstra syndrome is a genetic condition characterized by intellectual disability, childhood hypotonia, and facial dysmorphisms. Genital anomalies such as micropenis, cryptorchidism, and hypospadias have been reported in 30-40% of males diagnosed with the disease. However,… read more here.
Keywords: ehmt1 gene; pathogenic variant; due pathogenic; syndrome due ... See more keywords