Results 61 to 70 of about 12,560 (202)
Developmental Dynamics, EarlyView.Abstract Background Robinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in Drosophila and chicken models disrupts the balance of canonical and non‐canonical Wnt signaling.
Gamze Akarsu +4 more
wiley +1 more source
, 2005 Background: The technique of facial bipartition has been considered a great advance in achieving a more natural appearance in hypertelorism ...
Brinkmann, B +5 more
core +1 more source
Distal 2q duplication in a patient with intellectual disability
Human Genome Variation, 2022 We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia. Copy number analysis
Toshifumi Suzuki +10 more
doaj +1 more source
Roberts syndrome with bilateral corneal opacity: A case report
Indian Journal of Ophthalmology. Case Reports, 2022 Roberts syndrome (RBS) is a rare autosomal recessive genetic disorder. Mutation in the ESCO2 (establishment of cohesion 1 homologue 2) gene has been reported to cause disease.
Mukaddes Damla Ciftci +4 more
doaj +1 more source
The role of Rho GTPases in facial morphogenesis
Developmental Dynamics, EarlyView.The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley +1 more source
Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound
Clinical Case Reports, 2017 Key Clinical Message This article hypothesizes that it is possible to detect and diagnose both the autosomal recessive and dominant forms prenatally using ultrasound.
Bolette F. Jeppesen +5 more
doaj +1 more source
Developmental Dynamics, EarlyView.Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas +8 more
wiley +1 more source
Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
First report of tethered cord syndrome in a patient with Sotos syndrome
BMC Pediatrics, 2020 Background Sotos syndrome is caused by a gene deletion with an autosomal dominant pattern of inheritance. The Sotos syndrome was first described by Juan Sotos. Cole and Hughes identified the clinical characteristics of this syndrome.
Pelin Kuzucu +2 more
doaj +1 more source
Epilepsia Open, EarlyView.Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris +4 more
wiley +1 more source