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Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.
Harms, Frederike L; Nampoothiri, Sheela; Anazi, Shams; Yesodharan, Dhanya; Alawi, Malik; Kutsche, Kerstin; Alkuraya, Fowzan S.
Affiliation
  • Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, Kerala, India.
  • Anazi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, Kerala, India.
  • Alawi M; University Medical Center Hamburg-Eppendorf, Bioinformatics Core, Hamburg, Germany.
  • Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Am J Med Genet A ; 176(2): 477-482, 2018 02.
Article in En | MEDLINE | ID: mdl-29271567
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Bone Diseases, Developmental / Branchial Region / Cadherins / Genitalia / Intellectual Disability Type of study: Prognostic_studies Limits: Animals / Child, preschool / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Germany
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Bone Diseases, Developmental / Branchial Region / Cadherins / Genitalia / Intellectual Disability Type of study: Prognostic_studies Limits: Animals / Child, preschool / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Germany