Results 101 to 110 of about 278,748 (316)
Phenotyping CHST3 skeletal dysplasia from freezer-induced urine sediments
, 2023 Skeletal dysplasias are a group of rare genetic disorders that affect growth and development of the skeleton, leading to physical deformities and other medical problems.
Packer, Nicolle H +5 more
core +1 more source
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia +6 more
wiley +1 more source
Diagnostics of evolution of risk collapse complications at student group with anomalous cardiovascular reaction [PDF]
Саратовский научно-медицинский журнал, 2010 The description of investigation of predisposition to potential danger of collapse complications at 429 first-year students during physical training is presented using the analysis of pulse wave form.
Usanov D.A. +8 more
doaj
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins +9 more
wiley +1 more source
Orthodontic Care of Cleidocranial Dysplasia Patients [PDF]
, 2015 Cleidocranial dysplasia (CCD) is a rare congenital deformity inherited as an autosomal genetic trait with the prevalence of 1:1,000,000. It is characterized by dental defomities such as retained primary teeth, presence of supernumerary teeth, skeletal ...
Rahime Burcu Nur +2 more
core +1 more source
Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen +8 more
wiley +1 more source
Veterinary Medicine and ScienceA ‐year‐old Basset Hound, previously diagnosed with temporomandibular joint dysplasia, presented with a 6‐month history of pain during mastication and frequent open‐mouth locking episodes.
Elena Rappa +2 more
doaj +1 more source
Geleophysic dysplasia: Report on two sibs
, 1998 The authors describe two additional cases of Geleophysic dysplasia in siblings, which is a rare autosomal recessive disorder of glycoprotein metabolism whose basic defects remain to be determined.Os autores descrevem dois novos casos de displasia ...
Boy, Raquel +11 more
core +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source