Myhre syndrome: expanding its paediatric phenotypic spectrum.

Brunet-Garcia, Laia; Prada Martínez, Fredy Hermógenes; Carretero Bellon, Juan Manuel

Brunet-Garcia, Laia; Prada Martínez, Fredy Hermógenes; Carretero Bellon, Juan Manuel.

Affiliation

Brunet-Garcia L; Department of Paediatric Cardiology, Consorci Sanitari del Maresme, Hospital de Mataró, Barcelona, Spain.
Prada Martínez FH; Department of Paediatric Cardiology, Hospital Sant Joan de Déu. Barcelona, Spain.
Carretero Bellon JM; Department of Paediatric Cardiology, Hospital Sant Joan de Déu. Barcelona, Spain.

Cardiol Young ; 33(11): 2408-2410, 2023 Nov.

Article in En | MEDLINE | ID: mdl-37325812

Subject(s)

Hand Deformities, Congenital; Intellectual Disability; Male; Humans; Child; Mutation; Intellectual Disability/complications; Growth Disorders/diagnosis; Growth Disorders/genetics; Hand Deformities, Congenital/diagnosis; Hand Deformities, Congenital/genetics; Hand Deformities, Congenital/complications

Key words

Myhre syndrome; SMAD4 pathogenic variants; TGF-ß signalling; mid-aortic syndrome; paediatric; signalling

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hand Deformities, Congenital / Intellectual Disability Limits: Child / Humans / Male Language: En Journal: Cardiol Young Journal subject: ANGIOLOGIA / CARDIOLOGIA / PEDIATRIA Year: 2023 Document type: Article Affiliation country: Spain Country of publication: United kingdom

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