Co-occurrence of frameshift mutations in <i>SMAD6</i> and <i>TCF12</i> in a child with complex craniosynostosis.

Timberlake, Andrew T; Wu, Robin; Nelson-Williams, Carol; Furey, Charuta G; Hildebrand, Kristi I; Elton, Scott W; Wood, Jeyhan S; Persing, John A; Lifton, Richard P

Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis.

Timberlake, Andrew T; Wu, Robin; Nelson-Williams, Carol; Furey, Charuta G; Hildebrand, Kristi I; Elton, Scott W; Wood, Jeyhan S; Persing, John A; Lifton, Richard P.

Afiliación

Timberlake AT; 1Department of Genetics, Yale University School of Medicine, New Haven, CT USA.
Wu R; 2Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT USA.
Nelson-Williams C; 2Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT USA.
Furey CG; 1Department of Genetics, Yale University School of Medicine, New Haven, CT USA.
Hildebrand KI; 1Department of Genetics, Yale University School of Medicine, New Haven, CT USA.
Elton SW; 3Division of Pediatric Neurosurgery, University of North Carolina School of Medicine, Chapel Hill, NC USA.
Wood JS; 3Division of Pediatric Neurosurgery, University of North Carolina School of Medicine, Chapel Hill, NC USA.
Persing JA; 4Division of Plastic and Reconstructive Surgery, University of North Carolina School of Medicine, Chapel Hill, NC USA.
Lifton RP; 2Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT USA.

Hum Genome Var ; 5: 14, 2018.

Article en En | MEDLINE | ID: mdl-30038786

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2018 Tipo del documento: Article Pais de publicación: Reino Unido

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