P445. The Role of the Gut Microbiota in Patients With Kleefstra Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Biological Psychiatry"
DOI: 10.1101/2022.02.04.478662
Abstract: Kleefstra Syndrome (KS) is a rare monogenetic syndrome, caused by haploinsufficiency of the EHMT1 gene, an important regulator of neurodevelopment. The clinical features of KS include intellectual disability, autistic behavior and gastrointestinal problems. The gut… read more here.
Keywords: family members; kleefstra syndrome; gut microbiota;
Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association
Sign Up to like & getrecommendations! Published in 2018 at "Case Reports in Endocrinology"
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
Kleefstra Syndrome with Severe Sensory Neural Deafness and De Novo Novel Mutation.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP"
DOI: 10.29271/jcpsp.2022.02.236
Abstract: Kleefstra syndrome is a rare inherited neuro-developmental condition characterised by facial dysmorphism, microcephaly, hypotonia, developmental delay, and intellectual disability. It is a rare syndrome; and less than 100 cases with different genetic mutations are reported… read more here.
Keywords: syndrome; deafness; kleefstra syndrome; mutation ... See more keywords