A review on the role of genetic mutations in the autism spectrum disorder
S Ghafouri-Fard, A Pourtavakoli, BM Hussen… - Molecular …, 2023 - Springer
Autism spectrum disorder (ASD) is among the most widespread neurodevelopmental
diseases, with an approximate prevalence rate of 1 in 59. From a genetic point of view, this …
diseases, with an approximate prevalence rate of 1 in 59. From a genetic point of view, this …
Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response
LJ Starr, ME Lindsay, D Perry… - Pediatric and …, 2022 - journals.sagepub.com
Background: Myhre syndrome, caused by pathogenic variants in SMAD4, is characterized
by compact body habitus with short stature, distinctive craniofacial appearance, stiff skin …
by compact body habitus with short stature, distinctive craniofacial appearance, stiff skin …
[HTML][HTML] The Effects of Delayed Hearing Rehabilitation in a Patient with Myhre's Syndrome during COVID-19 Pandemic
C Laria, A Casarella, A Rodio, R Nubi… - Archives of Clinical and …, 2022 - fortuneonline.org
Hearing loss (HL) is observed among pathologies in patients affected by Myhre syndrome
and it is predominantly conductive and sometime sensorineural or mixed. Hearing loss if not …
and it is predominantly conductive and sometime sensorineural or mixed. Hearing loss if not …