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A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.
Midro, Alina T; Stasiewicz-Jarocka, Beata; Borys, Jan; Kozlowski, Kazimierz; Skotnicka, Bozena; Tarasów, Eugeniusz; Hubert, Ewa; Konstantynowicz, Jerzy; Panasiuk, Barbara; Rydzanicz, Malgorzata; Pollak, Agnieszka; Stawinski, Piotr; Skowronski, Rafal; Ploski, Rafal.
Afiliação
  • Midro AT; Department of Clinical Genetics, Medical University, Bialystok, Poland.
  • Stasiewicz-Jarocka B; Department of Clinical Genetics, Medical University, Bialystok, Poland.
  • Borys J; Clinic of Maxillo-Facial Surgery, Medical University, Bialystok, Poland.
  • Kozlowski K; Department of Medical Imaging, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Skotnicka B; Department of Pediatric Otolaryngology, Medical University, Bialystok, Poland.
  • Tarasów E; Department of Radiology, Medical University, Bialystok, Poland.
  • Hubert E; Clinic of Maxillo-Facial Surgery, Medical University, Bialystok, Poland.
  • Konstantynowicz J; Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University, Bialystok, Poland.
  • Panasiuk B; Department of Clinical Genetics, Medical University, Bialystok, Poland.
  • Rydzanicz M; Department of Medical Genetics, Medical University, Warsaw, Poland.
  • Pollak A; World Hearing Center, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.
  • Stawinski P; World Hearing Center, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.
  • Skowronski R; Department of Orthopaedics and Traumatology, Medical University, Bialystok, Poland.
  • Ploski R; Department of Medical Genetics, Medical University, Warsaw, Poland.
Am J Med Genet A ; 176(11): 2382-2388, 2018 11.
Article em En | MEDLINE | ID: mdl-30329210
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Hajdu-Cheney / Receptor Notch2 / Mutação Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Polônia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Hajdu-Cheney / Receptor Notch2 / Mutação Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Polônia