Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

Bashir, Rani A; Dixit, Abhijit; Goedhart, Caitlin; Parboosingh, Jillian S; Innes, Allan M; Ferreira, Patrick; Hasan, Shabih U; Au, Ping-Yee B

Bashir, Rani A; Dixit, Abhijit; Goedhart, Caitlin; Parboosingh, Jillian S; Innes, Allan M; Ferreira, Patrick; Hasan, Shabih U; Au, Ping-Yee B.

Afiliación

Bashir RA; Department of Pediatrics, Section of Neonatal-Perinatal Medicine, University of Calgary, Calgary, Alberta, Canada.
Dixit A; Clinical Genetics, City Campus, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.
Goedhart C; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.
Parboosingh JS; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.
Innes AM; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
Ferreira P; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
Au PB; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.

Am J Med Genet A ; 173(10): 2596-2604, 2017 Oct.

Article en En | MEDLINE | ID: mdl-28696035

Asunto(s)

Craneosinostosis/genética; Craneosinostosis/patología; Histona Acetiltransferasas/genética; Mutación; Fenotipo; Adulto; Humanos; Lactante; Recién Nacido; Masculino; Síndrome

Palabras clave

Lin-Gettig; Ohdo; Say-Barber-Biesecker-Young-Simpson; arthrogryposis; blepharophimosis; congenital hypothyroidism; craniofacial abnormalities; craniosynostoses; disorders of sex development; genetic disease, inborn; genitopatellar; histone acetyltransferases; multiple abnormalities; polyhydramnios

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Craneosinostosis / Histona Acetiltransferasas / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos

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