… The main purpose of this thesis was the investigation of the molecular bases of Myhre
syndrome through functional and in silico approaches. Molecular studies and assays on cell …

… First described in 1981 by Myhre, Ruvalcaba and Graham 1, the Myhre syndrome (MS) is
characterized by short stature, brachydactyly, facial dysmorphism (short palpebral fissures, …

… ), Moore-Federman (OMIM 127200), and stiff skin syndrome (OMIM 184900). Although
the molecular bases for some of these clinically related conditions are unknown, increasing …

… Although the molecular basis for some of these clinically related conditions is unknown, …
mutated in Myhre syndrome. Eight subjects with clinical features fitting Myhre syndrome were …

… Molecular bases of these conditions have been recently elucidated and alterations in
transforming growth factor β (TGF-β) signaling have been recognized as a common pathogenic …

… with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this
syndrome on the basis … for Ile500 in 11 individuals with Myhre syndrome. All three mutations are …

… Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre
syndrome. Otol Neurotol Off Publ Am Otol Soc Am Neurotol Soc Eur Acad Otol Neurotol. 2014;35:…

… Myhre syndrome (OMIM 139210) is a rare developmental … of the clinical features of Myhre
syndrome during childhood in a … -threatening complications of Myhre syndrome that justify the …

… The molecular basis of Myhre syndrome was reported as missense … The molecular mechanisms
underlying Myhre syndrome … with the recognition that Myhre syndrome shared the same …

… in cells from a Myhre syndrome case. Citation10 Heterozygous missense SMAD4 mutations
have also been identified in subjects affected with Myhre syndrome, Citation11 while the …