Integrative analysis of Lunatic Fringe variants associated with spondylocostal dysostosis type‐III
The FASEB Journal, Volume 38, Issue 13, 15 July 2024.Molecular categorization of Lunatic Fringe (LFNG) variants which cause spondylocostal dysostosis type‐III. Each category is characterized by the variants’ effect on subcellular localization and enzymatic functionality. We hypothesize that the summative effect of variants on these two characteristics may contribute to a genotype–phenotype correlation ...
Parker Wengryn +8 more
wiley +1 more source
Animal models for studying neural crest development: is the mouse different? [PDF]
, 2015 The neural crest is a uniquely vertebrate cell type and has been well studied in a number of model systems. Zebrafish, Xenopus and chick embryos largely show consistent requirements for specific genes in early steps of neural crest development.
Barriga, Elias H. +3 more
core
The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain [PDF]
, 2012 Background Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological ...
A Bairoch +28 more
core +3 more sources
An Acrofacial Dysostosis Case of Rodriguez Type [PDF]
, 2010 Acrofacial dysostosis (AFD) is an extremely rare syndrome, characterized by severe mandibulofacial dysostosis and various limb anomalies. Based on the variation in limb deformities, two major types are recognized: (1) Nager?type AFD, presenting ...
Asututi, Ida ayu +6 more
core +1 more source
Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes [PDF]
, 2020 Treacher Collins syndrome (TCS: OMIM 154500) is an autosomal dominant craniofacial disorder belonging to the heterogeneous group of mandibulofacial dysostoses.ObjectiveTo investigate four Treacher Collins syndrome patients of the Sgaw Karen family living
Carlson, Bruce M. +7 more
core +1 more source
Children with special health care needs attending emergency department in Italy: analysis of 3479 cases [PDF]
, 2020 Background: Although children with special health care needs (CSHCN) represent a minority of the population, they go through more hospitalizations, more admissions to the Emergency Department (ED), and receive a major number of medical prescriptions, in ...
Alberto Villani +14 more
core +1 more source
The radiologic diagnosis of skeletal dysplasias : past, present and future [PDF]
, 2020 Skeletal dysplasias have been recognised since recorded history began. The advent of radiography at the beginning of the 20th century and the subsequent introduction of departments of radiology have had tremendous impact and allowed conditions to be ...
Hall, C.M., Offiah, A.C.
core +1 more source
Lysosomal storage diseases as a complex pathophysiological and clinical problem - part one [PDF]
Lysosomal storage diseases (LSDs) are a group of rare genetic diseases that are characterized by the accumulation of undecomposed molecules in lysosomes due to deficits in specific enzymes. One of the most common subtypes of LSDs is mucopolysaccharidoses
Mikołajczak, Karolina
core +4 more sources
Investigation of uncharacterized spondylocostal dysostosis using whole exome sequencing [PDF]
, 2016 Skeletal dysplasias and dysostoses are a genotypically and phenotypically diverse group of disorders that affect the growth, development and maintenance of cartilage and bone.
Doherty, Theodore Brian
core +1 more source
Clinical and radiographic features of pycnodysostosis : a case report [PDF]
, 2017 Pycnodysostosis is a rare disorder that was first described in 1962; however, it was only in 1996 that the defective gene was discovered, which led to a better understanding of this disease.
Alvares, Pâmella +7 more
core +1 more source