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Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Abdel-Salam, Ghada M H; Sayed, Inas S M; Afifi, Hanan H; Abdel-Ghafar, Sherif F; Abouzaid, Maha R; Ismail, Samira I; Aglan, Mona S; Issa, Mahmoud Y; El-Bassyouni, Hala T; El-Kamah, Ghada; Effat, Laila K; Eid, Maha; Zaki, Maha S; Temtamy, Samia A; Abdel-Hamid, Mohamed S.
Afiliación
  • Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Sayed ISM; Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
  • Afifi HH; Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
  • Abdel-Ghafar SF; Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Abouzaid MR; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Ismail SI; Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
  • Aglan MS; Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
  • Issa MY; Medical Molecular Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • El-Bassyouni HT; Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
  • El-Kamah G; Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Effat LK; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Eid M; Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Temtamy SA; Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
  • Abdel-Hamid MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Am J Med Genet A ; 182(6): 1407-1420, 2020 06.
Article en En | MEDLINE | ID: mdl-32267100
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Predisposición Genética a la Enfermedad / Enanismo / Retardo del Crecimiento Fetal / Microcefalia / Antígenos Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Africa Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Egipto
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Predisposición Genética a la Enfermedad / Enanismo / Retardo del Crecimiento Fetal / Microcefalia / Antígenos Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Africa Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Egipto