… ), Myhre syndrome and Weill–Marchesani syndrome. Mutations in several genes have
been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding …

… Insights into the molecular basis of these rare disorders have advanced … polyposis syndromes
and the molecular alterations … syndrome, Riley–Smith syndrome, and Ruvalcaba–Myhre–…

Microcephaly is a frequent feature of neurodevelopmental disorders (NDDs). Our study presents
the heterogeneous spectrum of genetic disorders in patients with microcephaly either in …

… of these syndromes and to review the targets of cancer surveillance. The molecular
alterations … : Bannayan-Zonana syndrome, Riley-Smith syndrome, and Ruvalcaba-Myhre-Smith …

… These include Weill–Marchesani syndrome, geleophysic dysplasia, acromicric dysplasia,
and Myhre Syndrome. Further, FBN1 mutations are directly linked to a short stature phenotype …

… in Myhre syndrome resulting from disruption of several TGFβ/BMP signaling-controlled
developmental pathways including those regulating craniofacial, muscular, and central nervous …

… from an advisory panel for Myhre syndrome, board fees from … basis of a syndrome has
been recognised, individuals with milder or distinct phenotypes with the same molecular basis …

… A possible diagnosis of Alpha-Thalassemia X-Linked Intellectual Disability syndrome (ATRX)
had previously been proposed based on clinical features and facial gestalt, but molecular …

… In this review, we provide an exhaustive update of the genetic bases of the most frequent
congenital heart diseases as well as other syndromes associated with congenital heart defects, …

… family that has been implicated in Myhre syndrome, a skeletal dysplasia characterized by …
basis of physeal defects in Smad4-deficient mice and skeletal deformities in Myhre syndrome …