Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation.

Kantaputra, Piranit Nik; Kapoor, Seema; Verma, Prashant; Kaewgahya, Massupa; Kawasaki, Katsushige; Ohazama, Atsushi; Ketudat Cairns, James R

Kantaputra, Piranit Nik; Kapoor, Seema; Verma, Prashant; Kaewgahya, Massupa; Kawasaki, Katsushige; Ohazama, Atsushi; Ketudat Cairns, James R.

Afiliação

Kantaputra PN; Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand; Dentaland Clinic, Chiang Mai, Thailand. Electronic a
Kapoor S; Pediatrics Research & Genetic Lab, Department of Pediatrics, MAMC & Associated Lok Nayak Hospital, New Delhi, India.
Verma P; Pediatrics Research & Genetic Lab, Department of Pediatrics, MAMC & Associated Lok Nayak Hospital, New Delhi, India.
Kaewgahya M; Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.
Kawasaki K; Division of Oral Anatomy, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Ohazama A; Division of Oral Anatomy, Department of Oral Biological Science, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Ketudat Cairns JR; School of Chemistry, Institute of Science, Center for Biomolecular Structure, Function and Application, Suranaree University of Technology, Nakhon Ratchasima, Thailand; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.

Eur J Med Genet ; 60(12): 695-700, 2017 Dec.

Article em En | MEDLINE | ID: mdl-28917830

Assuntos

Amenorreia/genética; Ectromelia/genética; Mutação de Sentido Incorreto; Ossos Pélvicos/anormalidades; Anormalidades Dentárias/genética; Útero/anormalidades; Proteínas Wnt/genética; Adulto; Amenorreia/diagnóstico; Animais; Pré-Escolar; Ectromelia/diagnóstico; Epitélio/metabolismo; Homozigoto; Humanos; Masculino; Camundongos; Linhagem; Anormalidades Dentárias/diagnóstico

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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Ossos Pélvicos / Anormalidades Dentárias / Útero / Mutação de Sentido Incorreto / Ectromelia / Proteínas Wnt / Amenorreia Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Animals / Child, preschool / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article

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