Your browser doesn't support javascript.
loading
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Almannai, Mohammed; Marafi, Dana; Abdel-Salam, Ghada M H; Zaki, Maha S; Duan, Ruizhi; Calame, Daniel; Herman, Isabella; Levesque, Felix; Elbendary, Hasnaa M; Hegazy, Ibrahim; Chung, Wendy K; Kavus, Haluk; Saeidi, Kolsoum; Maroofian, Reza; AlHashim, Aqeela; Al-Otaibi, Ali; Al Madhi, Asma; Abou Al-Seood, Hager M; Alasmari, Ali; Houlden, Henry; Gleeson, Joseph G; Hunter, Jill V; Posey, Jennifer E; Lupski, James R; El-Hattab, Ayman W.
Affiliation
  • Almannai M; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
  • Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Abdel-Salam GMH; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre, Cairo, Egypt.
  • Duan R; Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre, Cairo, Egypt.
  • Calame D; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt.
  • Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Levesque F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Elbendary HM; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Hegazy I; Texas Children's Hospital, Houston, Texas, USA.
  • Chung WK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Kavus H; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Saeidi K; Texas Children's Hospital, Houston, Texas, USA.
  • Maroofian R; Division of Medical Genetics and Metabolic, Department of Paediatrics, Jim Pattison Children's Hospital, University of Saskatchewan, Saskatoon, Canada.
  • AlHashim A; Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre, Cairo, Egypt.
  • Al-Otaibi A; Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre, Cairo, Egypt.
  • Al Madhi A; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.
  • Abou Al-Seood HM; Departments of Medicine, Columbia University Irving Medical Center, New York, New York, USA.
  • Alasmari A; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.
  • Houlden H; Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran.
  • Gleeson JG; UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Hunter JV; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Posey JE; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Lupski JR; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
  • El-Hattab AW; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Clin Genet ; 101(5-6): 530-540, 2022 05.
Article in En | MEDLINE | ID: mdl-35322404
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Microcephaly / Nervous System Malformations Type of study: Prognostic_studies Limits: Humans Language: En Journal: Clin Genet Year: 2022 Document type: Article Affiliation country: Arabia Saudita Country of publication: Dinamarca
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Microcephaly / Nervous System Malformations Type of study: Prognostic_studies Limits: Humans Language: En Journal: Clin Genet Year: 2022 Document type: Article Affiliation country: Arabia Saudita Country of publication: Dinamarca