Condition: Myhre syndrome


rs281875320 in SMAD4 gene and Myhre syndrome PMID 22243968 2012 A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

PMID 22158539 2011 Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

PMID 24715504 2014 Novel SMAD4 mutation causing Myhre syndrome.

PMID 24424121 2014 Myhre and LAPS syndromes: clinical and molecular review of 32 patients.