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Gain‐of‐function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome

AE Lin, C Michot, V Cormier‐Daire… - American journal of …, 2016 - Wiley Online Library
Myhre syndrome is a rare, distinctive syndrome due to specific gain‐of‐function mutations in
SMAD4. The characteristic phenotype includes short stature, dysmorphic facial features …
被引用次数：60 相关文章

Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome

AE Lin, C Michot, V Cormier-Daire… - … journal of medical …, 2016 - pubmed.ncbi.nlm.nih.gov
Myhre syndrome is a rare, distinctive syndrome due to specific gain-of-function mutations in
SMAD4. The characteristic phenotype includes short stature, dysmorphic facial features …

Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.

AE Lin, C Michot, V Cormier-Daire… - American Journal of …, 2016 - europepmc.org
Myhre syndrome is a rare, distinctive syndrome due to specific gain-of-function mutations in
SMAD4. The characteristic phenotype includes short stature, dysmorphic facial features …

Gain‐of‐function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome

AE Lin, C Michot, V Cormier‐Daire… - American Journal of …, 2016 - cir.nii.ac.jp
抄録< jats: sec>< jats: label/>< jats: p> Myhre syndrome is a rare, distinctive syndrome due
to specific gain‐of‐function mutations in< jats: italic> SMAD4</jats: italic>. The characteristic …