EYA1 mutation in a newborn female presenting with cardiofacial syndrome.

Shimasaki, N; Watanabe, K; Hara, M; Kosaki, K

Shimasaki, N; Watanabe, K; Hara, M; Kosaki, K.

Affiliation

Shimasaki N; Department of Pediatrics, Shimizu City Hospital, Shimizu City, Japan.

Pediatr Cardiol ; 25(4): 411-3, 2004.

Article in En | MEDLINE | ID: mdl-15493068

Subject(s)

Branchio-Oto-Renal Syndrome/genetics; Facial Asymmetry/congenital; Facial Asymmetry/genetics; Heart Defects, Congenital/genetics; Point Mutation/genetics; Trans-Activators/genetics; DNA Mutational Analysis; Diagnosis, Differential; Female; Humans; Infant, Newborn; Intracellular Signaling Peptides and Proteins; Nuclear Proteins; Phenotype; Protein Tyrosine Phosphatases; Sequence Deletion/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Trans-Activators / Point Mutation / Branchio-Oto-Renal Syndrome / Facial Asymmetry / Heart Defects, Congenital Type of study: Diagnostic_studies Limits: Female / Humans / Newborn Language: En Journal: Pediatr Cardiol Year: 2004 Document type: Article Affiliation country: Japan Country of publication: United States

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