… This article reports the first case of a Japanese girl with molecularly confirmed Myhre
syndrome (MS). The patient was 9 years old at her first visit, and she had been diagnosed with …

… report the first Japanese case of a … a Myhre syndrome case. Citation10 Heterozygous
missense SMAD4 mutations have also been identified in subjects affected with Myhre syndrome, …

… 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 …

… Myhre syndrome in Chinese. Literature review on Myhre syndrome was also performed. …
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation. …

… Myhre syndrome is a rare disorder caused by a heterozygous … We report the case of a
Chinese boy with Myhre syndrome … in children with Myhre syndrome without adverse effects. …

Myhre syndrome is a multisystem connective tissue disorder involving the skin and the
cardiovascular, respiratory, gastrointestinal, and musculoskeletal systems. Affected individuals …

… reported SMAD4 pathogenic variants in Myhre syndrome patients using dual-… Myhre
syndrome cases and discussed the possible mechanism of SMAD4 variants in Myhre syndrome …

… codon for Ile500 in 11 individuals with Myhre syndrome [4]. To our knowledge, 58 affected
individuals with a molecularly confirmed diagnosis of Myhre syndrome have been reported[1,4…

… So far, only four SMAD4 pathogenic variants have been observed in Myhre syndrome. …
familial case of Myhre syndrome and a second adult proband with Myhre syndrome. All four …