… a case of Myhre syndrome in a 23-month-old Chinese male infant with distinctive facial
features, complete syndactyly of fingers and short stature. The diagnosis of Myhre syndrome was …

… 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:…

… Male with Myhre syndrome at age 12 years with mild facial features (mild maxillary
underdevelopment and thin vermilion of the upper lip) and finger contractures. Reported as Patient 4 …

… Myhre syndrome is inherited in an autosomal dominant manner. Most probands with Myhre
syndrome have … risk for Myhre syndrome and preimplantation genetic testing are possible. …

… ToF, we describe five additional individuals with Myhre syndrome and classic ToF, ToF with
… crest cell migration in Myhre syndrome. We advise clinicians that Myhre syndrome should be …

… manifestation of Myhre syndrome is hearing loss, the etiopathogenesis of which has not
yet been deduced. Newborns with Myhre syndrome typically pass universal newborn hearing …

… 2C shows serum inhibin B values obtained in unselected and untreated young CHH males
of our population. The range of values is very broad, even overlapping values obtained in …

… reported in 46 patients with Myhre syndrome (OMIM #139210) [… While the clinical picture of
Myhre syndrome has been further … We report five new Myhre syndrome patients with SMAD4 …

… Cardiac involvement in Myhre syndrome is very common and highly variable (approximately
70% of cases). The most common CHD forms encompass various degrees of left-sided …

… Myhre syndrome is a rare disease secondary to pathogenic variants in SMAD4 gene. It is
a … cases of Myhre syndrome who, additionally, presented with mid-aortic syndrome. This …