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A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay.
Al-Kurbi, Alya A; Da'as, Sahar Isa; Aamer, Waleed; Krishnamoorthy, Navaneethakrishnan; Poggiolini, Ilaria; Abdelrahman, Doua; Elbashir, Najwa; Al-Shabeeb Akil, Ammira; Glass, Graeme E; Fakhro, Khalid A.
Afiliação
  • Al-Kurbi AA; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, 34110, Qatar; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.
  • Da'as SI; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, 34110, Qatar; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.
  • Aamer W; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.
  • Krishnamoorthy N; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.
  • Poggiolini I; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.
  • Abdelrahman D; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.
  • Elbashir N; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.
  • Al-Shabeeb Akil A; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar.
  • Glass GE; Division of Plastic and Craniofacial Surgery, Sidra Medicine, 26999, Doha, Qatar.
  • Fakhro KA; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, 34110, Qatar; Department of Human Genetics, Sidra Medicine, 26999, Doha, Qatar; Department of Genetic Medicine, Weill Cornell Medical College, Doha, 24144, Qatar. Electronic address: kfakhro@sidra.org.
Eur J Med Genet ; 65(4): 104455, 2022 Apr.
Article em En | MEDLINE | ID: mdl-35182808
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Down / Anormalidades Craniofaciais / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Down / Anormalidades Craniofaciais / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article