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A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.
Ullah, Asmat; Umair, Muhammad; Muhammad, Dost; Bilal, Muhammad; Lee, Kwanghyuk; Leal, Suzanne M; Ahmad, Wasim.
Afiliação
  • Ullah A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Umair M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Muhammad D; Chandka Medical College, Shaheed Mohtarma Benazir Bhutto Medical University Larkana, Sindh, Pakistan.
  • Bilal M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Lee K; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Ann Hum Genet ; 82(3): 129-134, 2018 05.
Article em En | MEDLINE | ID: mdl-29322508

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Nanismo / Receptores de Proteínas Morfogenéticas Ósseas Tipo I Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Nanismo / Receptores de Proteínas Morfogenéticas Ósseas Tipo I Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Ano de publicação: 2018 Tipo de documento: Article