A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, short hands and feet, compact...

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Vydáno v:Am J Med Genet A
Hlavní autoři: Alagia, Marianna, Cappuccio, Gerarda, Pinelli, Michele, Torella, Annalaura, Brunetti‐Pierri, Raffaella, Simonelli, Francesca, Limongelli, Giuseppe, Oppido, Guido, Nigro, Vincenzo, Brunetti‐Pierri, Nicola
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2017
Témata:
Clinical Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5814867/
https://ncbi.nlm.nih.gov/pubmed/29230941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38560
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