Three rare disease diagnoses in one patient through exome sequencing
Witteveen-Kolk syndrome is caused by specific changes (known as pathogenic variants) to, or a deletion of, a gene called SIN3A (SIN3A is an abbreviation of the gene's full name, switch-insensitive 3 transcription regulator family member A). The SIN3A gene is located on the long 'q' arm of chromosome 15 in a region called 15q24.2 (see below).
(PDF) Nursing Interventions for Colostomy Care in a Child with Witteveen Kolk Syndrome
Witteveen-Kolk syndrome (WITKOS) is a rare neurodevelopmental disorder characterized by developmental delay/intellectual disability, facial dysmorphisms, and short stature. The syndrome is.
WITKOS (WitteveenKolk Syndrome) and what it is YouTube
Witteveen-Kolk syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay and dysmorphic facial features including a long face with prominent forehead, depressed nasal bridge, long-smooth philtrum and malformed ears. Skeletal abnormalities, microcephaly and malformation of the brain are other findings.
WITTEVEENKOLK SYNDROME Semantic Scholar
Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder with characteristic distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging (summary by Balasubramanian et al., 2021).
Kinderneurologie.eu
The Witteveen-Kolk syndrome (WITKOS), caused by defects of the SIN3A gene, is a heterogeneous disorder characterized by distinctive facial features, microcephaly, short stature, delayed cognitive and motor development. Although micropenis and cryptorchidism have been reported in this syndrome, WITKOS has not been formally associated with CHH so.
Witteveen kolk Syndrome SIN3A
Witteveen-Kolk syndrome, also known as WITKOS and 15q24 microdeletion syndrome, is a rare neurodevelopmental disorder characterized by developmental delay/intellectual disability, facial dysmorphisms, and short stature. The syndrome is caused by loss of function of switch‐insensitive 3 transcription regulator family member A ( SIN3A ).
WITTEVEENKOLK SYNDROME Semantic Scholar
Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental.
WITTEVEENKOLK SYNDROME Semantic Scholar
613406 - WITTEVEEN-KOLK SYNDROME; WITKOS To ensure long-term funding for the OMIM project, we have diversified our revenue stream.
Kinderneurologie.eu
Witteveen-Kolk syndrome, 613406, Autosomal dominant; WITKOS (15q24 microdeletion syndrome) (SIN3A gene) (Sequence Analysis-All Coding Exons) (Postnatal) GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR.
Síndrome de WitteveenKolk Una extraña condición genética a propósito de un caso YouTube
Witteveen-Kolk syndrome (WITKOS) is a neurodevelopmental condition, the first case described in 2016, and is characterized by distinctive facial traits, microcephaly, small height, modest intellectual delay, delayed development, ventriculomegaly, corpus callosal atrophy, cerebellar atrophy on MRI-brain imaging. This condition results from frameshift and missense mutations in switch-insensitive.
Clinical photographs of our patient at 3 years of age. a, b Broad and... Download Scientific
Witteveen-Kolk syndrome (WITKOS) is a rare neurodevelopmental disorder characterized by developmental delay/intellectual disability, facial dysmorphisms, and short stature. The syndrome is caused by loss of function of switch‐insensitive 3 transcription regulator family member A ( SIN3A ).
DNA methylation episignature for WitteveenKolk syndrome due to SIN3A haploinsufficiency
Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A.We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients.Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties.
Anterior megalophthalmos in sisters with WitteveenKolk syndrome Journal of American
Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3A variants adversely affecting protein function have mild.
WITTEVEENKOLK SYNDROME Semantic Scholar
Witteveen-Kolk syndrome. Disease definition A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities.
AV Facial profiles of patients with a 9q34.3 deletion. Pa Download Scientific Diagram
Witteveen-Kolk syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay and dysmorphic facial features including a long face with prominent forehead, depressed nasal bridge, long-smooth philtrum and malformed ears. Skeletal abnormalities, microcephaly and malformation of the brain are other findings.
(PDF) Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with WitteveenKolk Syndrome
Witteveen-Kolk syndrome (WITKOS) is a rare, autosomal dominant neurodevelopmental disorder caused by heterozygous loss-of-function alterations in the SIN3A gene. WITKOS has variable expressivity that commonly overlaps with other neurodevelopmental disorders. In this study, we characterized a distinct DNA methylation epigenetic signature (episignature) distinguishing WITKOS from unaffected.
