Results 61 to 70 of about 34,364 (292)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Fibroblast growth factor 8: Multifaceted role in development and developmental disorder
Genes and DiseasesFibroblast growth factor 8 (FGF8), a secreted signaling molecule, involves in regulating cell survival, proliferation, migration, and differentiation. It exhibits a highly dynamic gene expression pattern throughout embryonic development, participates in ...
Huamin Yin +4 more
doaj +1 more source
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
Caracterización de alteraciones craneofaciales en población con necesidades especiales: autismo y retardo mental. Revisión sistemática de la literatura / Craniofacial Abnormalities in Special-Needs Population. Systematic Review of Literature [PDF]
, 2015 Antecedentes: en los pacientes con discapacidad física y mental se han encontrado anomalías orales y dentales que pueden llevar a un mal funcionamiento del complejo estomatognático.
Velosa Porras, Juliana; Pontificia Universidad Javeriana +2 more
core +2 more sources
Craniofacial Trauma and Vascular Injury
, 2021 Cerebrovascular injury is a potentially devastating outcome following craniofacial trauma. Interventional radiologists play an important role in detecting, grading, and treating the different types of vascular injury.
Mathew, Sunu +2 more
core +1 more source
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology.
, 2016 Craniofacial abnormalities are among the most common features of human genetic syndromes and disorders. The etiology of these conditions is often complex, influenced by both genetic context and the environment.
Bergstrom, David E +13 more
core +1 more source
Analysis of Craniofacial and Dental Abnormalities in a novel mouse model for Alagille Syndrome [PDF]
, 2021 Alagille Syndrome is a multisystem genetic disorder characterized by chronic cholestasis,cardiovascular anomalies, ocular abnormalities, skeletal defects, and characteristic facial features.
Tahk, Ji Hyun (Caroline)
core
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen +5 more
wiley +1 more source